ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.1593G>A (p.Ala531=)

gnomAD frequency: 0.00114  dbSNP: rs11573585
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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 RCV000549996 SCV000623075 benign Gorlin syndrome 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001579391 SCV002013236 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579391 SCV001807060 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579391 SCV001965038 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004553166 SCV004728449 likely benign PTCH2-related disorder 2019-05-23 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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