ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5418T>C (p.Asn1806=)

gnomAD frequency: 0.00006  dbSNP: rs149543306
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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 RCV000541063 SCV000625922 likely benign Duchenne muscular dystrophy 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992312 SCV005566515 likely benign Cardiovascular phenotype 2024-10-14 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. RCV001829551 SCV002093503 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-23 no assertion criteria provided clinical testing

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