ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1348del (p.Arg450fs) (rs886042362)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725059 SCV000333636 likely pathogenic not provided 2015-08-11 criteria provided, single submitter clinical testing
Counsyl RCV000316051 SCV000800696 uncertain significance Smith-Lemli-Opitz syndrome 2018-04-20 criteria provided, single submitter clinical testing

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