ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu)

gnomAD frequency: 0.00635  dbSNP: rs77113162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420835 SCV000527455 benign not specified 2016-07-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000534714 SCV000658792 benign LAMA2-related muscular dystrophy 2025-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488935 SCV002798489 likely benign Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2021-10-08 criteria provided, single submitter clinical testing

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