ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter)

gnomAD frequency: 0.00001  dbSNP: rs776104105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263648 SCV001441740 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2019-10-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001780214 SCV002016449 pathogenic not provided 2020-03-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462839 SCV004190519 likely pathogenic Merosin deficient congenital muscular dystrophy 2023-04-20 criteria provided, single submitter clinical testing

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