ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3189C>T (p.Gly1063=) (rs28446339)

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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 RCV000561999 SCV000674451 benign Hereditary cancer-predisposing syndrome 2017-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000192519 SCV000514303 benign not specified 2016-04-20 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.
Genetic Services Laboratory, University of Chicago RCV000192519 SCV000248614 likely benign not specified 2015-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382314 SCV000481276 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000123023 SCV000481277 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000123023 SCV000166318 benign Gorlin syndrome 2017-12-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000192519 SCV000303348 benign not specified criteria provided, single submitter clinical testing

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