ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.12C>T (p.Tyr4=) (rs782011714)

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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 RCV000726522 SCV000345217 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000726522 SCV000532345 likely benign not provided 2020-01-03 criteria provided, single submitter clinical testing
Invitae RCV001085328 SCV000636280 likely benign Emery-Dreifuss muscular dystrophy 1, X-linked 2020-11-11 criteria provided, single submitter clinical testing

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