ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2561-7T>C

gnomAD frequency: 0.00011  dbSNP: rs112140654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456281 SCV000560023 benign Gorlin syndrome 2025-01-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000456281 SCV004017134 likely benign Gorlin syndrome 2023-07-07 criteria provided, single submitter clinical testing

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