ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.3012G>A (p.Thr1004=)

gnomAD frequency: 0.00487  dbSNP: rs113725211
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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 RCV000500092 SCV000595522 likely benign not specified 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000962298 SCV000719125 benign not provided 2019-10-04 criteria provided, single submitter clinical testing
Invitae RCV000962298 SCV001109374 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925473 SCV004744501 benign LAMB1-related disorder 2019-05-31 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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