Submissions for variant NM_001105206.3(LAMA4):c.4822-3C>T

gnomAD frequency: 0.00151  dbSNP: rs191447048

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037385	SCV000061042	likely benign	not specified	2015-05-06	criteria provided, single submitter	clinical testing	c.4801-3C>T in intron 34 of LAMA4: This variant is not expected to have clinical significance because it has been identified in 0.5% (54/10374) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs191447048).
GeneDx	RCV001703881	SCV000250510	likely benign	not provided	2021-10-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233186	SCV000287333	benign	Dilated cardiomyopathy 1JJ	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251598	SCV000320176	likely benign	Cardiovascular phenotype	2018-12-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Eurofins Ntd Llc (ga)	RCV000037385	SCV000701756	likely benign	not specified	2016-10-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000233186	SCV002803702	likely benign	Dilated cardiomyopathy 1JJ	2021-07-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037385	SCV003929141	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing