ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2892G>A (p.Pro964=)

gnomAD frequency: 0.00004  dbSNP: rs377213209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249238 SCV000303342 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000528641 SCV000622973 likely benign Gorlin syndrome 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016832 SCV001177831 likely benign Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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