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The combination germline classification for this variant, usually to get a monogenic or Mendelian condition as from the ACMG/AMP rules, or for response into a drug. This benefit is calculated by NCBI depending on facts from submitters. Browse our rules for calculating the aggregate classification.
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The number of variants in ClinVar for this gene, like lesser variants within the gene and larger CNVs that overlap or fully incorporate the gene.
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Stars represent the mixture assessment position, or the level of review supporting the mixture germline classification for this VCV record.
ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence variations on RNA splicing recommend that this variant might produce or fortify a splice site. In summary, the accessible proof is now inadequate to find out the position of this variant in disease. Therefore, it's been labeled being a Variant of Uncertain Importance. Alright
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