ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7016A>G (p.His2339Arg)

gnomAD frequency: 0.00001  dbSNP: rs398124041
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000212489 SCV000112650 likely benign not specified 2015-12-15 criteria provided, single submitter clinical testing
GeneDx RCV001508956 SCV000235852 likely benign not provided 2018-10-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29847600)
PreventionGenetics, part of Exact Sciences RCV000212489 SCV000309940 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000544107 SCV000625948 benign Duchenne muscular dystrophy 2024-12-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508956 SCV001715406 uncertain significance not provided 2019-04-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001508956 SCV003829515 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000544107 SCV005373947 likely benign Duchenne muscular dystrophy 2024-09-22 criteria provided, single submitter clinical testing

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