ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.1873A>G (p.Ile625Val)

gnomAD frequency: 0.00014  dbSNP: rs141658354
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516242 SCV000613962 uncertain significance not specified 2016-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000686319 SCV000813833 benign LAMA2-related muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001796091 SCV002032701 uncertain significance not provided 2021-12-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001796091 SCV003808206 uncertain significance not provided 2020-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001796091 SCV005407989 uncertain significance not provided 2024-08-12 criteria provided, single submitter clinical testing BP4

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