ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)

gnomAD frequency: 0.00036  dbSNP: rs142807436
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723715 SCV000112596 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000723715 SCV000235848 benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Invitae RCV001083222 SCV000288063 likely benign Duchenne muscular dystrophy 2024-01-25 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000853038 SCV000995795 benign Cardiomyopathy 2019-03-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001167894 SCV001330440 uncertain significance Dilated cardiomyopathy 3B 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000723715 SCV001371239 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265600 SCV002548298 likely benign not specified 2022-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354279 SCV002655232 likely benign Cardiovascular phenotype 2019-12-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004537361 SCV004763150 likely benign DMD-related disorder 2022-02-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001835678 SCV002091015 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-08-02 no assertion criteria provided clinical testing

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