ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2755C>T (p.Arg919Cys)

gnomAD frequency: 0.00094  dbSNP: rs138018456
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085693 SCV000658658 likely benign LAMA2-related muscular dystrophy 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000840034 SCV000981947 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000840034 SCV002036253 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000840034 SCV002037817 uncertain significance not provided no assertion criteria provided clinical testing

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