ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8226A>G (p.Gln2742=)

gnomAD frequency: 0.00002  dbSNP: rs746514008
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000487873 SCV000231386 uncertain significance not provided 2015-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000245458 SCV000309945 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247407 SCV000318924 benign Cardiovascular phenotype 2019-12-02 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.
CeGaT Center for Human Genetics Tuebingen RCV000487873 SCV000575627 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085409 SCV000625964 benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001085409 SCV001652767 likely benign Duchenne muscular dystrophy 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826915 SCV002087694 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-08-09 no assertion criteria provided clinical testing

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