ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) (rs3772165)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000613942 SCV000744188 benign Spinocerebellar ataxia, autosomal recessive 10 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613942 SCV000734278 benign Spinocerebellar ataxia, autosomal recessive 10 no assertion criteria provided clinical testing
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.
Illumina Clinical Services Laboratory,Illumina RCV000358461 SCV000444327 benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116351 SCV000313136 benign not specified criteria provided, single submitter clinical testing

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