ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) (rs199476092)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083878 SCV000166305 benign Gorlin syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563051 SCV000674517 benign Hereditary cancer-predisposing syndrome 2016-11-01 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Co-occurence with mutation in same gene (phase unknown)
OMIM RCV000008706 SCV000028915 pathogenic Holoprosencephaly 7 2002-04-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034565 SCV000043455 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121886 SCV000086089 not provided not specified 2013-09-19 no assertion provided reference population

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