ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn)

gnomAD frequency: 0.00050  dbSNP: rs139159258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560653 SCV000658791 likely benign LAMA2-related muscular dystrophy 2024-10-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133369 SCV003808227 uncertain significance not provided 2020-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543250 SCV004771235 likely benign LAMA2-related disorder 2022-05-17 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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