ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2362+8G>A (rs201541845)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000249560 SCV000514299 benign not specified 2016-05-27 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.
Invitae RCV000123014 SCV000166309 benign Gorlin syndrome 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249560 SCV000303339 likely benign not specified criteria provided, single submitter clinical testing
Vantari Genetics RCV000210821 SCV000267081 benign Hereditary cancer-predisposing syndrome 2016-01-05 criteria provided, single submitter clinical testing

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