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

gnomAD frequency: 0.00233  dbSNP: rs140146478

Total submissions: 6

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880797	SCV001023919	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967679	SCV004787927	likely benign	LAMB1-related disorder	2019-07-31	no assertion criteria provided	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).
Department of Molecular Biology and Genetics, Acibadem University	RCV005052804	SCV005686442	likely pathogenic	Multiple sclerosis	2024-06-10	no assertion criteria provided	research