ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) (rs144562471)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723626 SCV000111527 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000247087 SCV000307641 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261724 SCV000373905 uncertain significance Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719256 SCV000850122 likely benign History of neurodevelopmental disorder 2016-07-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000723626 SCV001014748 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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