ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2363-1G>A (rs1131691700)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493366 SCV000582656 pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing The c.2561-1 G>A splice site variant in the PTCH1 gene destroys the canonical splice acceptor site in intron 15. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.2561-1 G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
MutSpliceDB: a database of splice sites variants effects on splicing,NIH RCV000493366 SCV000925693 not provided not provided no assertion provided in vitro

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