ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.9165G>A (p.Thr3055=) (rs137905486)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725916 SCV000340503 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000329066 SCV000725564 likely benign not specified 2017-12-08 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 RCV000622128 SCV000736132 likely benign Cardiovascular phenotype 2017-11-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001080762 SCV000751576 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000329066 SCV001159901 benign not specified 2018-09-18 criteria provided, single submitter clinical testing

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