ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3809T>C (p.Val1270Ala)

dbSNP: rs1342034180
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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 RCV000823069 SCV000963910 benign Gorlin syndrome 2022-10-18 criteria provided, single submitter clinical testing

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