Submissions for variant NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)

gnomAD frequency: 0.04859  dbSNP: rs17409162

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000606923	SCV000444320	benign	Autosomal recessive spinocerebellar ataxia 10	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000606923	SCV000744187	benign	Autosomal recessive spinocerebellar ataxia 10	2015-09-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000606923	SCV001775346	benign	Autosomal recessive spinocerebellar ataxia 10	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001711378	SCV001946222	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Invitae	RCV001711378	SCV004424379	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116352	SCV000150273	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606923	SCV000734277	benign	Autosomal recessive spinocerebellar ataxia 10		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116352	SCV001951544	benign	not specified		no assertion criteria provided	clinical testing