ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2888-8C>T

dbSNP: rs567994836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197985 SCV000252669 benign Gorlin syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001697237 SCV000532773 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255317 SCV002526871 benign Hereditary cancer-predisposing syndrome 2022-02-21 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001697237 SCV004160195 benign not provided 2022-09-01 criteria provided, single submitter clinical testing PTCH1: BS1, BS2

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