ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) (rs567600444)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000386515 SCV000373910 uncertain significance Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503164 SCV000594361 uncertain significance not specified 2016-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717252 SCV000848101 uncertain significance History of neurodevelopmental disorder 2016-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731830 SCV000859683 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000386515 SCV000894663 uncertain significance Smith-Lemli-Opitz syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000731830 SCV001053027 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing

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