ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1362G>A (p.Lys454=) (rs147850435)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180568 SCV000233035 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716638 SCV000847480 likely benign History of neurodevelopmental disorder 2016-08-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV001080017 SCV001114012 likely benign Smith-Lemli-Opitz syndrome 2019-12-31 criteria provided, single submitter clinical testing

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