ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.2559C>T (p.Pro853=)

gnomAD frequency: 0.00026  dbSNP: rs148265788
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868157 SCV001009455 benign Gorlin syndrome 2025-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264031 SCV002544273 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing PTCH2: BP4, BP7

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