ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.399C>T (p.Ala133=) (rs147424205)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716005 SCV000846838 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,In silico models in agreement (benign)
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000400238 SCV000745305 likely benign Smith-Lemli-Opitz syndrome 2017-06-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000243526 SCV000231007 likely benign not specified 2015-10-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400238 SCV000373922 uncertain significance Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243526 SCV000307646 benign not specified criteria provided, single submitter clinical testing

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