ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) (rs909217)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755505 SCV000603310 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715328 SCV000846157 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000352975 SCV000677268 benign Smith-Lemli-Opitz syndrome 2017-04-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079641 SCV000111524 benign not specified 2018-06-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352975 SCV000373907 likely benign Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079641 SCV000307639 benign not specified criteria provided, single submitter clinical testing

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