ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1812C>T (p.Ala604=)

gnomAD frequency: 0.00066  dbSNP: rs140919039
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080466 SCV000112368 benign not specified 2018-05-21 criteria provided, single submitter clinical testing
Invitae RCV000205067 SCV000261314 likely benign Duchenne muscular dystrophy 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001697072 SCV000529134 benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617990 SCV000737149 likely benign Cardiovascular phenotype 2016-08-22 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. RCV001831833 SCV002092234 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-07-29 no assertion criteria provided clinical testing

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