ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2376C>T (p.Phe792=)

gnomAD frequency: 0.00001  dbSNP: rs150046431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243192 SCV000304131 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV002472981 SCV002771706 uncertain significance not provided 2022-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519880 SCV003291027 likely benign LAMA2-related muscular dystrophy 2025-01-06 criteria provided, single submitter clinical testing

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