ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.231C>T (p.Thr77=) (rs4316537)

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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 RCV000755249 SCV000603305 benign not provided 2017-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715281 SCV000846109 benign History of neurodevelopmental disorder 2016-03-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000329907 SCV000677271 benign Smith-Lemli-Opitz syndrome 2017-05-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079650 SCV000111533 benign not specified 2013-07-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329907 SCV000373926 likely benign Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079650 SCV000307644 benign not specified criteria provided, single submitter clinical testing

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