ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1410G>A (p.Leu470=) (rs375993195)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592908 SCV000708359 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717208 SCV000848057 likely benign History of neurodevelopmental disorder 2016-10-19 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001275364 SCV001618329 likely benign Smith-Lemli-Opitz syndrome 2020-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275364 SCV001460483 likely benign Smith-Lemli-Opitz syndrome 2020-09-16 no assertion criteria provided clinical testing

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