ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1812C>T (p.Ala604=) (rs140919039)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080466 SCV000112368 benign not specified 2018-05-21 criteria provided, single submitter clinical testing
Invitae RCV000205067 SCV000261314 likely benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000080466 SCV000529134 likely benign not specified 2017-10-10 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.
Ambry Genetics RCV000617990 SCV000737149 likely benign Cardiovascular phenotype 2016-08-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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