ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4200C>A (p.Gly1400=)

dbSNP: rs1554688167
Minimum review status: Collection method:
Minimum conflict level:
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 RCV003610299 SCV004489565 likely benign Gorlin syndrome 2022-12-15 criteria provided, single submitter clinical testing

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