ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2735C>T (p.Ala912Val)

gnomAD frequency: 0.00003  dbSNP: rs376580266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293114 SCV001434104 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002568758 SCV003020199 likely benign LAMA2-related muscular dystrophy 2023-10-27 criteria provided, single submitter clinical testing

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