ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.201+1G>A

dbSNP: rs1131690967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492162 SCV000580999 likely pathogenic Hereditary cancer-predisposing syndrome 2013-07-22 criteria provided, single submitter clinical testing Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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