ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1718C>T (p.Ala573Val) (rs5972599)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000469616 SCV000560804 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing

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