ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.90C>T (p.Gly30=)

dbSNP: rs2120355252
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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 RCV001487268 SCV001691754 likely benign Smith-Lemli-Opitz syndrome 2019-08-07 criteria provided, single submitter clinical testing

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