ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the result of sequence modifications on RNA splicing recommend that this variant could generate or improve a splice web-site. In summary, the accessible evidence is presently inadequate to ascertain the purpose of the variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.

This price is calculated by NCBI determined by information from submitters. Read through our regulations for calculating the overview status. The volume of submissions which lead to this evaluation position is proven in parentheses.

There is no functional proof in ClinVar for this variation. If you have created useful facts for this variation, you should look at distributing that knowledge to ClinVar.

This column incorporates additional information supporting the classification, like citations, the comment on classification, and in-depth evidence provided as observations with the variant through the submitter.

The situation for that classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted position and allele origin of individuals observed using this type of variant.

The mixture germline classification for this variant, ordinarily for a monogenic or Mendelian condition as inside the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI according to info from submitters. Read through our regulations for calculating the mixture classification.

There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should take into consideration publishing that facts to ClinVar.

The distributing organization thr777 for this submitted (SCV) report. This column also contains the SCV accession and version variety, the date this SCV 1st appeared in ClinVar, as well as the day that this SCV was very last updated in ClinVar.

This Site is utilizing a protection company to safeguard itself from on the web attacks. The action you simply done activated the safety Option. There are numerous actions that could cause this block like distributing a specific term or phrase, a SQL command or malformed facts.

The site is safe. The https:// makes sure that you are connecting into the Formal Internet site Which any information you offer is encrypted and transmitted securely.

Stars depict the aggregate review standing, or the level of evaluate supporting the aggregate germline classification for this VCV document.

The number of variants in ClinVar for this gene, which include scaled-down variants within the gene and larger CNVs that overlap or fully incorporate the gene.

The positioning is safe. The https:// makes sure that you're connecting on the Formal Web-site Which any info you supply is encrypted and transmitted securely.

Stars characterize the critique standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details with the submitter.