ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala)

gnomAD frequency: 0.00010  dbSNP: rs139843107
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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 RCV000528186 SCV000658648 benign LAMA2-related muscular dystrophy 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483505 SCV002793360 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2021-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139866 SCV003815825 uncertain significance not provided 2019-03-27 criteria provided, single submitter clinical testing

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