ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7281A>G (p.Leu2427=)

dbSNP: rs886038872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251931 SCV000318745 likely benign Cardiovascular phenotype 2013-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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