ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.226G>A (p.Val76Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716769 SCV000847612 likely benign History of neurodevelopmental disorder 2016-08-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728546 SCV000856137 benign not specified 2017-07-31 criteria provided, single submitter clinical testing
Invitae RCV000882330 SCV001025562 benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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