Submissions for variant NM_006796.3(AFG3L2):c.1664-9T>C

gnomAD frequency: 0.00182  dbSNP: rs200476229

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000174759	SCV000166897	benign	not specified	2013-12-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000174759	SCV000226124	benign	not specified	2015-05-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000271865	SCV000407643	benign	Spinocerebellar ataxia type 28	2018-01-12	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.
Athena Diagnostics	RCV000676672	SCV000843583	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676672	SCV001102330	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676672	SCV002498352	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	AFG3L2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000676672	SCV005251164	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676672	SCV000802468	benign	not provided	2018-03-16	no assertion criteria provided	clinical testing