ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln)

gnomAD frequency: 0.95243  dbSNP: rs1800280
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152765 SCV000202153 benign not specified 2016-02-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152765 SCV000268977 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.8810G) is the minor allele. This a llele (G) has been identified in 6% (409/6728) of European American chromosomes and 1% (47/3833) of African American chromosomes by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS/; dbSNP rs1800280) and thus meets crite ria to be classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812126 SCV000603330 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Mendelics RCV000990591 SCV001141606 benign Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000990591 SCV001717154 benign Duchenne muscular dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657863 SCV001876783 benign Dilated cardiomyopathy 3B 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000990591 SCV001876785 benign Duchenne muscular dystrophy 2021-07-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152765 SCV001743782 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000152765 SCV001917000 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000152765 SCV001932782 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001831945 SCV002080236 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-04-20 no assertion criteria provided clinical testing

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