ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.1590A>C (p.Ser530=)

gnomAD frequency: 0.00175  dbSNP: rs139481973
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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 RCV000504360 SCV000595527 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000838647 SCV000980523 likely benign not provided 2021-02-08 criteria provided, single submitter clinical testing
Invitae RCV000838647 SCV001037553 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000838647 SCV002062779 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing LAMB1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902781 SCV004722569 likely benign LAMB1-related condition 2023-12-20 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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