ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.189G>A (p.Gln63=) (rs1044482)

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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 RCV000755248 SCV000603309 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715342 SCV000846171 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000271282 SCV000677269 benign Smith-Lemli-Opitz syndrome 2017-05-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079647 SCV000111530 benign not specified 2018-06-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271282 SCV000373928 likely benign Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079647 SCV000307642 benign not specified criteria provided, single submitter clinical testing

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