Submissions for variant NM_006796.3(AFG3L2):c.*28G>C

gnomAD frequency: 0.28281  dbSNP: rs1129115

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000357421	SCV000407636	benign	Spinocerebellar ataxia type 28	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.
Genome-Nilou Lab	RCV001548982	SCV001769009	benign	Optic atrophy 12	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548983	SCV001769010	benign	Spastic ataxia 5	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000357421	SCV001769011	benign	Spinocerebellar ataxia type 28	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001618575	SCV001844540	benign	not provided	2018-06-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618575	SCV005251157	benign	not provided		criteria provided, single submitter	not provided