ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) (rs753960624)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000578237 SCV000680188 pathogenic Smith-Lemli-Opitz syndrome 2017-11-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724648 SCV000700795 likely pathogenic not provided 2016-10-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000578237 SCV001163334 pathogenic Smith-Lemli-Opitz syndrome criteria provided, single submitter clinical testing
Counsyl RCV000578237 SCV000793712 likely pathogenic Smith-Lemli-Opitz syndrome 2017-08-29 no assertion criteria provided clinical testing

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