Submissions for variant NM_003194.5(TBP):c.216A>G (p.Gln72=)

gnomAD frequency: 0.08146  dbSNP: rs55736770

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118598	SCV000153004	likely benign	not specified	2014-06-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000612827	SCV000743886	likely benign	Spinocerebellar ataxia type 17	2014-10-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001610426	SCV001842366	benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019651	SCV004962193	likely benign	Inborn genetic diseases	2023-11-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612827	SCV000734490	likely benign	Spinocerebellar ataxia type 17		no assertion criteria provided	clinical testing