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The amount of variants in ClinVar which have been contained inside this gene, using a link to watch the listing of variants.

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the outcome of sequence changes on RNA splicing counsel that this variant may perhaps generate or strengthen a splice web page. In summary, the offered proof is at the moment inadequate to determine the position of the variant in condition. Hence, it has been categorised as being a Variant of Unsure Importance. (significantly less)

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So this day may very well be distinctive through the date in the “most recent submission” noted at the top of the web site. Enable Observe NCBI

Stars characterize the aggregate overview standing, or the level of review supporting the combination germline classification for this VCV report.

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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, please take into consideration publishing that data to ClinVar.

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There isn't any practical proof in ClinVar for this variation. When you've got generated practical knowledge for this variation, be sure to think about submitting that knowledge to ClinVar.