Submissions for variant NM_173500.4(TTBK2):c.3669C>T (p.His1223=)

gnomAD frequency: 0.01170  dbSNP: rs74398902

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000280550	SCV000391146	benign	Spinocerebellar ataxia type 11	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.
Invitae	RCV000960690	SCV001107700	benign	not provided	2023-12-18	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV001289308	SCV001477038	benign	not specified	2020-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000960690	SCV002525273	likely benign	not provided	2021-12-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.