Submissions for variant NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln)

gnomAD frequency: 0.02818  dbSNP: rs35168378

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV001256826	SCV001433293	benign	not specified	2019-07-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001683754	SCV001905243	benign	not provided	2019-11-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31619059, 30037590, 33111339)
Invitae	RCV001683754	SCV002402561	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002447239	SCV002734376	benign	Cardiovascular phenotype	2019-03-01	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Clinical Genetics, Academic Medical Center	RCV001683754	SCV001921566	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001256826	SCV001962745	benign	not specified		no assertion criteria provided	clinical testing