ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met)

gnomAD frequency: 0.02555  dbSNP: rs11573590
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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 RCV000464659 SCV000560004 benign Gorlin syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001613307 SCV001840861 benign not provided 2019-04-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316610 SCV004017179 benign Basal cell carcinoma, susceptibility to, 1 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613307 SCV005281423 benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235328 SCV005881126 benign Basal cell nevus syndrome 1 2025-02-01 criteria provided, single submitter clinical testing

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