ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro)

dbSNP: rs1557733311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV000721141 SCV001441230 pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2020-09-30 criteria provided, single submitter research
Hadassah Hebrew University Medical Center RCV000721141 SCV004099518 likely pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures criteria provided, single submitter clinical testing
OMIM RCV000721141 SCV000852024 pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2018-11-08 no assertion criteria provided literature only

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