ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.1675del (p.Gln559fs)

dbSNP: rs2140757755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002226594 SCV002505579 likely pathogenic Spinocerebellar ataxia type 11 2022-04-01 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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