ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.1422C>G (p.Ser474=)

dbSNP: rs780369106
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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 RCV000192718 SCV000247815 uncertain significance not specified 2015-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000900377 SCV000726479 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing
Invitae RCV000900377 SCV001044694 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967499 SCV004785742 likely benign LAMB1-related condition 2024-01-17 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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