ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence changes on RNA splicing suggest this variant might produce or strengthen a splice website. In summary, the readily available evidence is presently insufficient to ascertain the role of this variant in disease. Hence, it has been categorised as a Variant of Uncertain Significance. (significantly less)

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Stars symbolize the evaluation position, or the level of critique supporting the submitted (SCV) file. This value is calculated by NCBI dependant on facts from your submitter.

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There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, please look at distributing that information to ClinVar.

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The distributing Firm for this submitted (SCV) document. This column also includes the SCV accession and Variation range, the day this SCV initially appeared in ClinVar, plus the date this SCV was previous updated in ClinVar.

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The amount of variants in ClinVar that happen to be contained within this gene, having a url to watch the listing of variants.

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