ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser)

gnomAD frequency: 0.00043  dbSNP: rs149204722
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000427822 SCV000510925 uncertain significance not provided 2016-10-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000427822 SCV000570532 likely benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Invitae RCV000427822 SCV001034718 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524712 SCV003724202 likely benign Inborn genetic diseases 2022-11-10 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 RCV003950334 SCV004758784 likely benign LAMB1-related disorder 2019-12-12 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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