ClinVar Miner

Submissions for variant NM_016614.3(TDP2):c.949C>T (p.Arg317Ter)

dbSNP: rs142438588
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003149159 SCV003836733 pathogenic Spinocerebellar ataxia, autosomal recessive 23 2022-07-29 criteria provided, single submitter clinical testing

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