ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) (rs113663584)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573988 SCV000674456 likely benign Hereditary cancer-predisposing syndrome 2017-09-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034572 SCV000043449 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034572 SCV000610509 likely benign not provided 2017-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000121892 SCV000514304 likely benign not specified 2018-03-08 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 RCV000121892 SCV000086095 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000123025 SCV000166320 likely benign Gorlin syndrome 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121892 SCV000303351 benign not specified criteria provided, single submitter clinical testing

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