ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn)

gnomAD frequency: 0.00002  dbSNP: rs759642119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242239 SCV000318276 uncertain significance Cardiovascular phenotype 2013-02-08 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV002518681 SCV003031549 likely benign Duchenne muscular dystrophy 2024-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835745 SCV002077570 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-25 no assertion criteria provided clinical testing

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