Submissions for variant NM_022773.4(LMF1):c.1351C>T (p.Arg451Trp)

gnomAD frequency: 0.00273  dbSNP: rs138205062

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000963720	SCV001110891	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000963720	SCV001886239	benign	not provided	2018-11-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22135386, 24503134)
Ambry Genetics	RCV002382188	SCV002690051	benign	Cardiovascular phenotype	2019-11-01	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.
CeGaT Center for Human Genetics Tuebingen	RCV000963720	SCV004133605	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	LMF1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000963720	SCV005294399	benign	not provided		criteria provided, single submitter	not provided
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV005405447	SCV006069421	benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing