ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2955A>C (p.Ser985=)

gnomAD frequency: 0.00001  dbSNP: rs1060504532
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001446531 SCV001649579 likely benign Gorlin syndrome 2016-10-21 criteria provided, single submitter clinical testing

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