ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)

dbSNP: rs318240735
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000034277 SCV000058219 not provided Spinocerebellar ataxia type 11 no assertion provided literature only
Codex Genetics Limited RCV000034277 SCV000996005 pathogenic Spinocerebellar ataxia type 11 2019-02-28 no assertion criteria provided provider interpretation

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