ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.582C>T (p.Asn194=)

dbSNP: rs2118537361
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001454818 SCV001658557 likely benign Gorlin syndrome 2019-07-03 criteria provided, single submitter clinical testing

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