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: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000881280 SCV001024438 likely benign not provided 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000881280 SCV001782794 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629225 SCV005134548 likely benign Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003979891 SCV004792035 likely benign LAMB1-related disorder 2020-07-14 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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