ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.98+20T>A

gnomAD frequency: 0.00001  dbSNP: rs1017429578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802322 SCV002050227 likely benign Smith-Lemli-Opitz syndrome 2020-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001802322 SCV004654123 likely benign Smith-Lemli-Opitz syndrome 2023-12-30 criteria provided, single submitter clinical testing

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