ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.927C>A (p.Pro309=)

dbSNP: rs2538230541
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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 RCV003610129 SCV004410703 likely benign Gorlin syndrome 2022-10-31 criteria provided, single submitter clinical testing

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