ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.544C>T (p.His182Tyr)

dbSNP: rs2124055158
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226909 SCV002505808 uncertain significance Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2021-08-01 criteria provided, single submitter clinical testing

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