ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.927C>A (p.Gly309=) (rs149974099)

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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 RCV000275747 SCV000343456 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344149 SCV000373915 uncertain significance Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000275747 SCV000754773 likely benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717916 SCV000848776 likely benign History of neurodevelopmental disorder 2016-06-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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