Submissions for variant NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)

dbSNP: rs572772837

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000517712	SCV000615174	benign	not specified	2020-09-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000762581	SCV000892914	uncertain significance	not provided	2018-05-01	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000791112	SCV000930386	uncertain significance	Amyotrophic lateral sclerosis type 4	2019-04-27	criteria provided, single submitter	clinical testing
Invitae	RCV001503652	SCV001708508	likely benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2023-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002319518	SCV002606779	benign	Inborn genetic diseases	2021-09-02	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.
PreventionGenetics, part of Exact Sciences	RCV003942701	SCV004759774	likely benign	SETX-related condition	2020-06-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).