ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4803G>A (p.Pro1601=)

gnomAD frequency: 0.00007  dbSNP: rs766521929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878908 SCV001021899 benign LAMA2-related muscular dystrophy 2024-07-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796300 SCV002035550 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796300 SCV002037935 likely benign not provided no assertion criteria provided clinical testing

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