ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4179C>T (p.Pro1393=)

dbSNP: rs1057521043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822702 SCV002071912 uncertain significance not specified 2021-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772336 SCV004643967 likely benign Gorlin syndrome 2023-12-26 criteria provided, single submitter clinical testing

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