ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.126C>T (p.Ser42=) (rs150928869)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152714 SCV000202100 benign not specified 2016-03-01 criteria provided, single submitter clinical testing
Invitae RCV000633529 SCV000754774 benign Smith-Lemli-Opitz syndrome 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718684 SCV000849548 benign History of neurodevelopmental disorder 2017-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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