ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5586+9G>A

gnomAD frequency: 0.00044  dbSNP: rs200025478
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080664 SCV000112566 likely benign not specified 2016-01-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361961 SCV000482243 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000080664 SCV000516613 benign not specified 2016-05-06 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 RCV000463221 SCV000560846 likely benign Duchenne muscular dystrophy 2024-01-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811372 SCV001157358 benign not provided 2019-11-25 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000361961 SCV001366491 likely benign Dilated cardiomyopathy 3B 2019-03-21 criteria provided, single submitter clinical testing This variant was classified as: Likely benign.
PreventionGenetics, part of Exact Sciences RCV004542777 SCV004759908 likely benign DMD-related disorder 2023-02-15 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. RCV001831859 SCV002093485 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-21 no assertion criteria provided clinical testing

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