Submissions for variant NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln)

gnomAD frequency: 0.59837  dbSNP: rs3772165

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116351	SCV000313136	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000613942	SCV000444327	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	RCV000613942	SCV000744188	benign	Autosomal recessive spinocerebellar ataxia 10	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000991521	SCV001143012	benign	not provided	2019-07-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000613942	SCV001775347	benign	Autosomal recessive spinocerebellar ataxia 10	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000991521	SCV001888836	benign	not provided	2019-09-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000991521	SCV004380312	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000991521	SCV005241110	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116351	SCV000150272	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	RCV000613942	SCV000734278	benign	Autosomal recessive spinocerebellar ataxia 10		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116351	SCV001952684	benign	not specified		no assertion criteria provided	clinical testing