Submissions for variant NM_022773.4(LMF1):c.302G>C (p.Arg101Thr)

gnomAD frequency: 0.00422  dbSNP: rs147688306

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000730094	SCV000857807	benign	not specified	2017-11-17	criteria provided, single submitter	clinical testing
Invitae	RCV000907767	SCV001052492	benign	not provided	2023-10-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002440569	SCV002753170	benign	Cardiovascular phenotype	2019-09-16	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.
Fulgent Genetics, Fulgent Genetics	RCV002493320	SCV002803281	benign	Lipase deficiency, combined	2021-10-08	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000907767	SCV001919537	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000730094	SCV001963665	benign	not specified		no assertion criteria provided	clinical testing