Submissions for variant NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)

gnomAD frequency: 0.00136  dbSNP: rs117433399

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000419403	SCV000511299	uncertain significance	not provided	2016-12-28	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga)	RCV000419403	SCV000862579	uncertain significance	not provided	2018-07-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000419403	SCV001040334	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000419403	SCV004144792	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	LAMA1: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000419403	SCV001800498	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000419403	SCV001965818	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551419	SCV004741984	likely benign	LAMA1-related disorder	2023-11-26	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).