ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) (rs773379832)

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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,Klinikum rechts der Isar RCV000995873 SCV001150257 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2018-11-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093196 SCV001250055 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University RCV001095488 SCV001251082 likely benign not specified 2020-03-31 criteria provided, single submitter research

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