ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=)

gnomAD frequency: 0.00002  dbSNP: rs369076029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343385 SCV001537363 likely benign LAMA2-related muscular dystrophy 2024-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486392 SCV002788115 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2022-04-07 criteria provided, single submitter clinical testing

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