Submissions for variant NM_018075.5(ANO10):c.788G>A (p.Arg263His)

gnomAD frequency: 0.01896  dbSNP: rs41289586

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001147923	SCV001308780	benign	Autosomal recessive spinocerebellar ataxia 10	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics	RCV001287983	SCV001474757	benign	not specified	2019-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001724255	SCV002013913	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25730773)
Invitae	RCV001724255	SCV004428977	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724255	SCV001953728	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001287983	SCV001971423	benign	not specified		no assertion criteria provided	clinical testing