Submissions for variant NM_015046.7(SETX):c.2502A>G (p.Gly834=)

gnomAD frequency: 0.00004  dbSNP: rs762818441

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000659130	SCV000780945	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	SETX: BP4, BP7
Athena Diagnostics Inc	RCV001287952	SCV001474722	benign	not specified	2020-09-11	criteria provided, single submitter	clinical testing
Invitae	RCV001473215	SCV001677360	likely benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2018-12-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001849033	SCV002105140	uncertain significance	Hereditary spastic paraplegia	2020-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002424561	SCV002741914	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Clinical Genetics, Academic Medical Center	RCV000659130	SCV001924044	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000659130	SCV001964992	likely benign	not provided		no assertion criteria provided	clinical testing