ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1002C>A (p.Thr334=)

gnomAD frequency: 0.00001  dbSNP: rs778753729
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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 RCV001404139 SCV001606030 likely benign Smith-Lemli-Opitz syndrome 2023-09-19 criteria provided, single submitter clinical testing

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