Submissions for variant NM_022773.4(LMF1):c.1052G>A (p.Arg351Gln)

gnomAD frequency: 0.00458  dbSNP: rs192520307

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454875	SCV000539536	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae	RCV000971193	SCV001118819	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000971193	SCV001894384	benign	not provided	2020-01-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31619059)
Ambry Genetics	RCV002402225	SCV002708478	benign	Cardiovascular phenotype	2019-08-12	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	RCV000971193	SCV001923504	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000454875	SCV001973218	benign	not specified		no assertion criteria provided	clinical testing