ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1718C>T (p.Ala573Val)

gnomAD frequency: 0.00436  dbSNP: rs5972599
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213171 SCV000268946 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala573Val in exon 15 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (55/3831) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs5972599).
Ambry Genetics RCV000251049 SCV000318504 benign Cardiovascular phenotype 2017-04-04 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.
Invitae RCV000469616 SCV000560804 benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000213171 SCV001475841 benign not specified 2020-02-13 criteria provided, single submitter clinical testing
GeneDx RCV001722144 SCV001946921 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000213171 SCV004038122 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828055 SCV002092245 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-11 no assertion criteria provided clinical testing

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