ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1382A>G (p.Asn461Ser) (rs775115784)

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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 RCV000252992 SCV000318625 uncertain significance Cardiovascular phenotype 2013-05-27 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000460191 SCV000560880 likely benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853047 SCV000995804 likely benign Cardiomyopathy 2017-04-04 criteria provided, single submitter clinical testing

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