ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.4721G>A (p.Arg1574His) (rs755206033)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593867 SCV000707591 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV000462598 SCV000550307 benign Duchenne muscular dystrophy 2017-07-11 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000593867 SCV000925057 uncertain significance not provided 2016-11-02 no assertion criteria provided provider interpretation p.Arg1574His (c.4721G>A) in DMD Seen in a family with familial DCM in our center, with a likely pathogenic DSP variant. Testing done at Invitae. Given this is a missense change and is present at an appreciable frequency in ExAC (0.02%) we consider a variant of uncertain significance, probably benign.

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