ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.7820A>T (p.Lys2607Met) (rs72466581)

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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 RCV000308930 SCV000337085 uncertain significance not provided 2015-11-02 criteria provided, single submitter clinical testing
Invitae RCV001085652 SCV000625960 likely benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620173 SCV000736904 uncertain significance Cardiovascular phenotype 2017-09-22 criteria provided, single submitter clinical testing Insufficient evidence
GeneDx RCV000308930 SCV000984234 likely benign not provided 2018-04-19 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.

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