Submissions for variant NM_022773.4(LMF1):c.1593G>C (p.Glu531Asp)

gnomAD frequency: 0.00525  dbSNP: rs190958016

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000965314	SCV001112579	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000965314	SCV001892544	benign	not provided	2021-03-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22135386)
Ambry Genetics	RCV002400121	SCV002709718	benign	Cardiovascular phenotype	2020-02-27	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.
PreventionGenetics, part of Exact Sciences	RCV003916181	SCV004739795	likely benign	LMF1-related disorder	2021-03-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001701385	SCV001926224	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701385	SCV001967154	benign	not specified		no assertion criteria provided	clinical testing