ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.682C>T (p.Arg228Trp) (rs775773057)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674773 SCV000800167 uncertain significance Smith-Lemli-Opitz syndrome 2018-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000674773 SCV000894666 uncertain significance Smith-Lemli-Opitz syndrome 2018-10-31 criteria provided, single submitter clinical testing

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