ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6828C>T (p.Pro2276=)

gnomAD frequency: 0.00039  dbSNP: rs72466595
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080740 SCV000112642 benign not specified 2016-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000080740 SCV000168136 benign not specified 2014-03-13 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.
Invitae RCV000466055 SCV000560829 benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000080740 SCV000966289 benign not specified 2018-04-06 criteria provided, single submitter clinical testing This variant is classified as benign because it has been identified in 0.05% (96 /200010) of chromosomes in the Genome Aggregation Database (gnomAD, http://gnoma d.broadinstitute.org; dbSNP rs72466595). This variant is a silent change that do es not alter an amino acid and it is not predicted to impact splicing by in sili co prediction tools. ACMG/AMP Criteria applied: BA1; BP4; BP7.
Illumina Laboratory Services, Illumina RCV001167299 SCV001329778 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001528581 SCV002050187 benign not provided 2020-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362727 SCV002664203 benign Cardiovascular phenotype 2019-01-02 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000080740 SCV004038125 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001528581 SCV004164721 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing DMD: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV004542779 SCV004760190 likely benign DMD-related disorder 2019-11-14 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528581 SCV001740530 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528581 SCV001930396 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001831867 SCV002087819 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-05-25 no assertion criteria provided clinical testing

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