ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)

dbSNP: rs778218227
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647210 SCV001519244 likely pathogenic Spinocerebellar ataxia type 11 2021-01-04 criteria provided, single submitter research

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