ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.1596C>T (p.Ala532=)

gnomAD frequency: 0.00066  dbSNP: rs140921885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462228 SCV000560015 benign Gorlin syndrome 2025-01-23 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316614 SCV004017186 benign Basal cell carcinoma, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409646 SCV004123747 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing PTCH2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003409646 SCV005281432 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004551559 SCV004785244 likely benign PTCH2-related disorder 2019-09-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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