Submissions for variant NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)

gnomAD frequency: 0.00046  dbSNP: rs199904356

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723786	SCV000203573	uncertain significance	not provided	2014-02-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000153955	SCV000597068	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing
Invitae	RCV001080009	SCV000754306	benign	Spastic paraplegia	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316973	SCV000851967	benign	Inborn genetic diseases	2017-11-13	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
GeneDx	RCV000723786	SCV001844872	benign	not provided	2019-07-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847786	SCV002105201	likely benign	Hereditary spastic paraplegia	2017-01-31	criteria provided, single submitter	clinical testing