ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)

gnomAD frequency: 0.00003  dbSNP: rs373614496
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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 RCV002023664 SCV002298481 likely benign LAMA2-related muscular dystrophy 2024-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486726 SCV002777540 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2021-09-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134358 SCV003815839 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing

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