ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4349G>A (p.Arg1450Gln)

gnomAD frequency: 0.00099  dbSNP: rs148905630
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704648 SCV000577584 likely benign not provided 2020-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000654761 SCV000776660 benign LAMA2-related muscular dystrophy 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001704648 SCV005227194 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541538 SCV004791377 likely benign LAMA2-related disorder 2022-12-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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