ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.2127C>T (p.Asp709=)

gnomAD frequency: 0.01447  dbSNP: rs11573587
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460017 SCV000560009 benign Gorlin syndrome 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001770364 SCV002004618 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316613 SCV004017198 benign Basal cell carcinoma, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001770364 SCV005259857 likely benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235330 SCV005881127 benign Basal cell nevus syndrome 1 2025-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001796067 SCV002035119 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796067 SCV002035537 benign not specified no assertion criteria provided clinical testing

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