ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser)

gnomAD frequency: 0.00233  dbSNP: rs140146478
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238708 SCV000297118 uncertain significance not specified 2015-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000880797 SCV000524477 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000238708 SCV000595532 uncertain significance not specified 2015-09-18 criteria provided, single submitter clinical testing
Invitae RCV000880797 SCV001023919 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967679 SCV004787927 likely benign LAMB1-related condition 2019-07-31 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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