ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.492C>G (p.Leu164=)

dbSNP: rs759538408
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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 RCV001491679 SCV001696281 likely benign Smith-Lemli-Opitz syndrome 2024-04-02 criteria provided, single submitter clinical testing

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