Submissions for variant NM_015046.7(SETX):c.3345C>G (p.Ala1115=)

gnomAD frequency: 0.00039  dbSNP: rs142020270

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252372	SCV000312302	likely benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000252372	SCV000843791	benign	not specified	2019-12-23	criteria provided, single submitter	clinical testing
Invitae	RCV001085624	SCV001016832	likely benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2024-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311796	SCV001502110	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	SETX: BP4, BP7
GeneDx	RCV001311796	SCV002099681	likely benign	not provided	2021-04-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848032	SCV002105151	uncertain significance	Hereditary spastic paraplegia	2016-12-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321932	SCV002606663	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001311796	SCV001807356	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001311796	SCV001928883	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001311796	SCV001974138	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001311796	SCV002034404	likely benign	not provided		no assertion criteria provided	clinical testing