ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7464G>A (p.Leu2488=)

dbSNP: rs1603464003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825750 SCV000967209 likely benign not specified 2018-07-19 criteria provided, single submitter clinical testing The p.Leu2488Leu variant in DMD is classified as likely benign because it does n ot alter an amino acid residue, it is not located within the splice consensus se quence, and splice prediction algorithms do not predict a newly created splice s ite. ACMG/AMP Criteria applied: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001450978 SCV001654597 likely benign Duchenne muscular dystrophy 2023-06-16 criteria provided, single submitter clinical testing

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