Submissions for variant NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)

gnomAD frequency: 0.05750  dbSNP: rs56389778

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000606579	SCV000444333	benign	Autosomal recessive spinocerebellar ataxia 10	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000606579	SCV000744190	benign	Autosomal recessive spinocerebellar ataxia 10	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000991519	SCV001143010	benign	not provided	2019-07-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000606579	SCV001774884	benign	Autosomal recessive spinocerebellar ataxia 10	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000991519	SCV001882987	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000991519	SCV004424380	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000991519	SCV005241113	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116350	SCV000150271	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	RCV000606579	SCV000734280	benign	Autosomal recessive spinocerebellar ataxia 10		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116350	SCV001959289	benign	not specified		no assertion criteria provided	clinical testing