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The quantity of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or entirely contain the gene.
ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the influence of sequence variations on RNA splicing suggest that this variant could develop or bolster a splice web site. In summary, the obtainable evidence is now insufficient to determine the purpose of this variant in ailment. Therefore, it has been labeled as a Variant of Uncertain Significance. Okay
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There is not any purposeful evidence in ClinVar for this variation. Should you have created purposeful details for this variation, make sure you think about submitting that details to ClinVar.
The publishing Corporation for this submitted (SCV) report. This column also incorporates the SCV accession and Model amount, the date this SCV first appeared in ClinVar, as well as day that this SCV was past updated in ClinVar.
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The number of variants in ClinVar which can be contained in this gene, that has a link to perspective the listing of variants.
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The combination germline classification for this variant, generally to get a monogenic or Mendelian ailment as while in the ACMG/AMP guidelines, or for reaction to a drug. This worth is calculated by NCBI based on knowledge from submitters. Read our policies for calculating the combination slot thr777 classification.
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