Submissions for variant NM_001105206.3(LAMA4):c.921T>G (p.Ala307=)

gnomAD frequency: 0.00045  dbSNP: rs186498011

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037400	SCV000061057	benign	not specified	2015-03-04	criteria provided, single submitter	clinical testing	p.Ala330Ala in exon 8 of LAMA4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.7% (145/8626) of E ast Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs186498011).
GeneDx	RCV000037400	SCV000250520	benign	not specified	2015-02-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000540778	SCV000654028	benign	Dilated cardiomyopathy 1JJ	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170698	SCV001333292	benign	Cardiomyopathy	2018-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000540778	SCV001473813	benign	Dilated cardiomyopathy 1JJ	2019-12-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002371829	SCV002684098	benign	Cardiovascular phenotype	2019-03-27	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Clinical Genetics, Academic Medical Center	RCV000037400	SCV001923427	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001725946	SCV001963423	likely benign	not provided		no assertion criteria provided	clinical testing