Submissions for variant NM_022773.4(LMF1):c.1292C>A (p.Ala431Asp)

gnomAD frequency: 0.00797  dbSNP: rs115416993

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625426	SCV000745334	benign	Lipase deficiency, combined	2017-11-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000883435	SCV001026743	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000883435	SCV001790367	likely benign	not provided	2020-08-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002385961	SCV002692833	benign	Cardiovascular phenotype	2019-08-13	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000883435	SCV005216378	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001701417	SCV001922078	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917990	SCV004745155	benign	LMF1-related disorder	2019-03-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).