ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.468A>C (p.Val156=) (rs886044031)

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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 RCV000407090 SCV000343098 uncertain significance not provided 2016-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618940 SCV000737258 likely benign Cardiovascular phenotype 2017-05-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001486144 SCV001690595 likely benign Duchenne muscular dystrophy 2020-10-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274386 SCV001458503 likely benign Dystrophin deficiency 2020-09-16 no assertion criteria provided clinical testing

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