ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2884C>G (p.Leu962Val) (rs150959827)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247467 SCV000320012 likely benign Cardiovascular phenotype 2019-06-25 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Subpopulation frequency in support of benign classification
Invitae RCV000545266 SCV000625885 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593944 SCV000707460 likely benign not specified 2017-04-06 criteria provided, single submitter clinical testing

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