ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) (rs113434340)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000321018 SCV000615343 likely benign not specified 2017-01-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725767 SCV000339275 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing
Institute of Human Genetics,University of Wuerzburg RCV000850315 SCV000992490 uncertain significance Scapulohumeral muscular dystrophy no assertion criteria provided clinical testing

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