ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.130C>T (p.Gln44Ter) (rs132630262)

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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 RCV000078128 SCV000109966 pathogenic not provided 2013-09-10 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000078128 SCV000590864 pathogenic not provided 2016-07-25 criteria provided, single submitter clinical testing
OMIM RCV000011926 SCV000032159 pathogenic Emery-Dreifuss muscular dystrophy, X-linked 1995-10-01 no assertion criteria provided literature only

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