Submissions for variant NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)

gnomAD frequency: 0.00272  dbSNP: rs34781846

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000518054	SCV000615163	benign	not specified	2017-05-12	criteria provided, single submitter	clinical testing
Invitae	RCV000549702	SCV000645236	benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2024-01-23	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848900	SCV002105133	likely benign	Hereditary spastic paraplegia	2017-05-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002420300	SCV002727050	likely benign	Inborn genetic diseases	2020-06-30	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.
Genome-Nilou Lab	RCV003233669	SCV003931519	likely benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233670	SCV003931520	likely benign	Amyotrophic lateral sclerosis type 4	2023-02-08	criteria provided, single submitter	clinical testing