ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.8315G>A (p.Arg2772His)

gnomAD frequency: 0.00002  dbSNP: rs548903685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502182 SCV000595497 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060127 SCV002397733 benign not provided 2024-05-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551629 SCV004770579 likely benign LAMA1-related disorder 2022-10-11 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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