ClinVar Miner

Submissions for variant NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr) (rs200021943)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606397 SCV000745385 uncertain significance Cerebellar ataxia, Cayman type 2017-07-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606397 SCV000733885 uncertain significance Cerebellar ataxia, Cayman type no assertion criteria provided clinical testing

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