Submissions for variant NM_000426.4(LAMA2):c.8147G>A (p.Arg2716His)

gnomAD frequency: 0.00011  dbSNP: rs142781107

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518446	SCV000613984	uncertain significance	not specified	2016-11-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000689949	SCV000817621	likely benign	LAMA2-related muscular dystrophy	2024-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002527492	SCV003532333	likely benign	Inborn genetic diseases	2021-11-24	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.
Revvity Omics, Revvity	RCV003129880	SCV003814060	uncertain significance	not provided	2021-06-16	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV003129880	SCV004223938	uncertain significance	not provided	2023-06-22	criteria provided, single submitter	clinical testing	BP4
GeneDx	RCV003129880	SCV005080719	uncertain significance	not provided	2023-12-11	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31983221)