ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) (rs146867923)

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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 RCV000079659 SCV000111542 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380891 SCV000373930 uncertain significance Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079659 SCV000594363 likely benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717684 SCV000848540 likely benign History of neurodevelopmental disorder 2016-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)

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