ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.3340C>T (p.Leu1114=)

gnomAD frequency: 0.00032  dbSNP: rs372274925
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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 RCV002104365 SCV002431052 benign Gorlin syndrome 2023-04-12 criteria provided, single submitter clinical testing

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