The mixture germline classification for this variant, normally for your monogenic or Mendelian problem as inside the ACMG/AMP guidelines, or for response to your drug. This worth is calculated by NCBI based upon info from submitters. Examine our rules for calculating the aggregate classification.
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Stars stand for the assessment status, or the extent of assessment supporting the submitted (SCV) record. This price is calculated by NCBI determined by information from the submitter.
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Stars signify the combination overview status, or the extent of critique supporting the aggregate germline classification for this VCV history.
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence changes on RNA splicing suggest that this variant may well produce or bolster a splice web-site. In summary, the out there proof is at this time insufficient to determine the function of this variant in disease. Hence, it's been classified as a Variant of Unsure Significance. OK
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