Submissions for variant NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu)

gnomAD frequency: 0.00198  dbSNP: rs144278838

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885531	SCV001028983	likely benign	not provided	2025-01-13	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252265	SCV002523458	likely benign	See cases	2020-01-17	criteria provided, single submitter	clinical testing	ACMG classification criteria: BS1, BP4
GeneDx	RCV000885531	SCV003803339	uncertain significance	not provided	2023-02-07	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics	RCV000885531	SCV005217091	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004550037	SCV004772358	likely benign	LAMA1-related disorder	2020-07-27	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).