ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1184G>A (p.Arg395Gln)

gnomAD frequency: 0.00006  dbSNP: rs148511512
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000315224 SCV000333842 likely benign not specified 2015-08-04 criteria provided, single submitter clinical testing
Invitae RCV001084014 SCV000751559 benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000630594 SCV001155980 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing DMD: BP4
Illumina Laboratory Services, Illumina RCV001168119 SCV001330689 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000630594 SCV001869834 benign not provided 2019-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338824 SCV002640071 likely benign Cardiovascular phenotype 2021-03-22 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.
Natera, Inc. RCV001276611 SCV001463040 likely benign Dystrophin deficiency 2020-04-11 no assertion criteria provided clinical testing

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