ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)

gnomAD frequency: 0.00003  dbSNP: rs759973830
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518412 SCV000613964 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764622 SCV000895730 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2022-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000815597 SCV000956058 likely benign LAMA2-related muscular dystrophy 2024-01-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000518412 SCV001713375 uncertain significance not provided 2020-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000518412 SCV001988995 uncertain significance not provided 2019-07-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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