ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8913C>T (p.Leu2971=)

gnomAD frequency: 0.00001  dbSNP: rs780354925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595540 SCV000705989 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532506 SCV003502194 likely benign Duchenne muscular dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992375 SCV005566564 likely benign Cardiovascular phenotype 2024-10-28 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.

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