The situation to the classification, supplied by the submitter for this submitted (SCV) report. This column also includes the affected status and allele origin of individuals noticed using this type of variant.

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The quantity of variants in ClinVar which can be contained in just this gene, using a connection to see the listing of variants.

Stars depict the assessment status, or the extent of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI based upon knowledge in the submitter.

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Stars symbolize the aggregate critique position, or the extent of assessment supporting the mixture germline classification for this VCV report.

ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence changes on RNA splicing suggest that this variant may produce or improve a splice web page. In summary, the available evidence is currently inadequate to ascertain the purpose of the variant in condition. As a result, it has been classified as being a Variant of Unsure Importance. OK

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