ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) (rs17409162)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606923 SCV000744187 benign Spinocerebellar ataxia, autosomal recessive 10 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606923 SCV000734277 benign Spinocerebellar ataxia, autosomal recessive 10 no assertion criteria provided 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.
Illumina Clinical Services Laboratory,Illumina RCV000294454 SCV000444320 likely benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing

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