ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4234-13A>G

gnomAD frequency: 0.05327  dbSNP: rs41303181
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080606 SCV000112508 benign not specified 2016-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000080606 SCV000168181 benign not specified 2014-01-22 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000080606 SCV000268959 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.4234-13A>G in intron 30 of DMD: This variant is not expected to have clinical significance because it has been identified in 7.8% (524/6728) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs41303181).
PreventionGenetics, part of Exact Sciences RCV000080606 SCV000309933 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000337370 SCV000482254 benign Dilated cardiomyopathy 3B 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000080606 SCV001364024 benign not specified 2019-03-04 criteria provided, single submitter clinical testing Variant summary: DMD c.4234-13A>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.061 in 197236 control chromosomes in the gnomAD database, including 306 homozygotes and 4517 hemizygotes. Three ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as likely benign/benign. Based on the evidence outlined above, the variant was classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811370 SCV001473040 benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517154 SCV001725593 benign Duchenne muscular dystrophy 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000337370 SCV001876799 benign Dilated cardiomyopathy 3B 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001517154 SCV001876800 benign Duchenne muscular dystrophy 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811370 SCV005276016 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001831850 SCV002085346 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-08-09 no assertion criteria provided clinical testing

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