ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.1736G>A (p.Arg579Gln)

gnomAD frequency: 0.00126  dbSNP: rs115518856
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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 RCV000502742 SCV000595529 uncertain significance not specified 2017-02-14 criteria provided, single submitter clinical testing
Invitae RCV000881280 SCV001024438 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000881280 SCV001782794 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979891 SCV004792035 likely benign LAMB1-related disorder 2020-07-14 criteria provided, single submitter 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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