Submissions for variant NM_005097.4(LGI1):c.432-6_432-5dup

dbSNP: rs61662431

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001700951	SCV001941501	benign	not provided	2019-08-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329713	SCV002633255	benign	Inborn genetic diseases	2017-03-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002538649	SCV003285405	benign	Autosomal dominant epilepsy with auditory features	2022-08-12	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700951	SCV001926482	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726676	SCV001963156	benign	not specified		no assertion criteria provided	clinical testing