Submissions for variant NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser)

gnomAD frequency: 0.00314  dbSNP: rs148451013

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	RCV000224029	SCV000281174	likely benign	not provided	2015-09-28	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Athena Diagnostics	RCV000224029	SCV000613974	benign	not provided	2019-01-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085106	SCV000658726	benign	LAMA2-related muscular dystrophy	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000224029	SCV001890512	benign	not provided	2018-09-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516230	SCV003738327	likely benign	Inborn genetic diseases	2022-04-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV000224029	SCV005227204	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004532824	SCV004726685	benign	LAMA2-related disorder	2019-06-11	no assertion criteria provided	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).