ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1704+3G>A (rs773123973)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250936 SCV000319211 likely benign Cardiovascular phenotype 2019-08-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506220 SCV000603378 uncertain significance not specified 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV001088009 SCV000625846 likely benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728624 SCV000856222 uncertain significance not provided 2017-08-07 criteria provided, single submitter clinical testing

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