ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.45A>G (p.Leu15=)

gnomAD frequency: 0.00001  dbSNP: rs150214075
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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 RCV001460638 SCV001664516 likely benign Smith-Lemli-Opitz syndrome 2022-10-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001460638 SCV002093082 likely benign Smith-Lemli-Opitz syndrome 2021-10-07 no assertion criteria provided clinical testing

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