ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1749C>G (p.Asn583Lys)

gnomAD frequency: 0.00001  dbSNP: rs775846754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618573 SCV000736780 uncertain significance Cardiovascular phenotype 2017-02-22 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV001056880 SCV001221345 likely benign Duchenne muscular dystrophy 2024-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483707 SCV002791399 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834969 SCV002092241 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-29 no assertion criteria provided clinical testing

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