ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8137A>G (p.Asn2713Asp)

gnomAD frequency: 0.00001  dbSNP: rs766553671
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245734 SCV001419039 likely benign Duchenne muscular dystrophy 2024-05-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232212 SCV005878324 uncertain significance not provided 2024-07-25 criteria provided, single submitter clinical testing The DMD c.8137A>G; p.Asn2713Asp variant (rs766553671), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 970203). This variant is only observed on one allele in the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses predict that this variant is neutral (REVEL: 0.140). Due to limited information, the clinical significance of this variant is uncertain at this time.
Natera, Inc. RCV001836238 SCV002087707 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-02-22 no assertion criteria provided clinical testing

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