ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10677T>C (p.Ile3559=)

gnomAD frequency: 0.00002  dbSNP: rs765950547
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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) RCV000735137 SCV000863338 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078977 SCV001019112 likely benign Duchenne muscular dystrophy 2024-09-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000447 SCV001157273 likely benign not specified 2018-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406674 SCV002719434 likely benign Cardiovascular phenotype 2020-03-16 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. RCV001276608 SCV001463037 likely benign Dystrophin deficiency 2020-04-11 no assertion criteria provided clinical testing

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