ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=)

gnomAD frequency: 0.00121  dbSNP: rs200718262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712199 SCV000110666 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082052 SCV000658788 likely benign LAMA2-related muscular dystrophy 2024-12-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712199 SCV000842633 likely benign not provided 2017-11-17 criteria provided, single submitter clinical testing

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