ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)

gnomAD frequency: 0.00002  dbSNP: rs371376404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193502 SCV000247807 uncertain significance not specified 2015-03-17 criteria provided, single submitter clinical testing
Counsyl RCV000670884 SCV000795797 likely benign Merosin deficient congenital muscular dystrophy 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504467 SCV001709346 likely benign LAMA2-related muscular dystrophy 2024-04-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530130 SCV004735512 likely benign LAMA2-related disorder 2021-02-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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