ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.742T>C (p.Trp248Arg) (rs886044494)

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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 RCV000339772 SCV000345155 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Counsyl RCV000671730 SCV000796740 uncertain significance Smith-Lemli-Opitz syndrome 2017-12-28 criteria provided, single submitter clinical testing

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