ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)

gnomAD frequency: 0.00155  dbSNP: rs11573598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468241 SCV000560007 benign Gorlin syndrome 2024-06-17 criteria provided, single submitter clinical testing
GeneDx RCV001755715 SCV002005568 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002475914 SCV002798589 likely benign Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Medulloblastoma 2021-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001755715 SCV005434833 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing PTCH2: BP4, BS1

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