ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.304T>C (p.Leu102=)

dbSNP: rs1591113264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455969 SCV001659742 likely benign Smith-Lemli-Opitz syndrome 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001455969 SCV002798358 likely benign Smith-Lemli-Opitz syndrome 2021-07-30 criteria provided, single submitter clinical testing

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