Submissions for variant NM_198994.3(TGM6):c.1968-10C>T

gnomAD frequency: 0.98682  dbSNP: rs6036467

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000602403	SCV000433170	benign	Spinocerebellar ataxia type 35	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000602403	SCV000744679	benign	Spinocerebellar ataxia type 35	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000993317	SCV001146170	benign	not provided	2019-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000993317	SCV001868489	benign	not provided	2019-09-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000602403	SCV002098923	benign	Spinocerebellar ataxia type 35	2021-09-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000993317	SCV003340209	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000993317	SCV005315556	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000602403	SCV000734059	benign	Spinocerebellar ataxia type 35		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723935	SCV001952433	benign	not specified		no assertion criteria provided	clinical testing