ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.99-16G>A

gnomAD frequency: 0.00002  dbSNP: rs993275449
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001262016 SCV001439383 uncertain significance Smith-Lemli-Opitz syndrome 2020-07-23 criteria provided, single submitter research

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