ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3375G>C (p.Ser1125=)

dbSNP: rs191164314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086717 SCV001011224 benign Duchenne muscular dystrophy 2024-10-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000869769 SCV001155967 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453997 SCV002614821 likely benign Cardiovascular phenotype 2021-04-01 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. RCV001825749 SCV002085453 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-13 no assertion criteria provided clinical testing

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