ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.445G>C (p.Asp149His) (rs2070818)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230785 SCV000283517 benign Emery-Dreifuss muscular dystrophy 1, X-linked 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594536 SCV000708250 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000594536 SCV000731039 benign not specified 2017-11-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853050 SCV000995808 benign Cardiomyopathy 2017-04-04 criteria provided, single submitter clinical testing

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