ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.840C>T (p.Tyr280=) (rs148468879)

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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 RCV000263526 SCV000343874 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394015 SCV000373916 uncertain significance Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing

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