ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.861T>C (p.Val287=)

dbSNP: rs2118418760
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001432641 SCV001635415 likely benign Gorlin syndrome 2020-08-14 criteria provided, single submitter clinical testing

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