ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2024C>T (p.Ala675Val) (rs2227971)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000560992 SCV000674468 likely benign Hereditary cancer-predisposing syndrome 2018-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Conflicting evidence,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Subpopulation frequency in support of benign classification,Other data supporting benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000121885 SCV000171225 benign not specified 2014-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000121885 SCV000086088 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000123008 SCV000166303 benign Gorlin syndrome 2018-01-02 criteria provided, single submitter clinical testing
Oral and Maxillofacial Surgery,Tokyo Medical and Dental University RCV000123008 SCV000255958 benign Gorlin syndrome 2015-09-28 criteria provided, single submitter clinical testing

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