ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.395-14T>A

dbSNP: rs2118552430
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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 RCV002187364 SCV002349036 likely benign Gorlin syndrome 2022-01-26 criteria provided, single submitter clinical testing

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