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Stars characterize the overview status, or the extent of assessment supporting the submitted (SCV) record. This benefit is calculated by NCBI determined by facts through the submitter.

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

ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the impact of sequence adjustments on RNA splicing propose that this variant may possibly make or strengthen a splice website. In summary, the obtainable proof is currently inadequate to find out the job of this variant in condition. Therefore, it has been categorized like a Variant of Uncertain Importance. Alright

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The quantity of variants in ClinVar that are contained inside of this gene, which has a hyperlink to view the list of variants.

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