ClinVar Miner

Submissions for variant NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val)

gnomAD frequency: 0.00279  dbSNP: rs41267702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625149 SCV000743883 likely benign Spinocerebellar ataxia type 1 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625149 SCV000745310 likely benign Spinocerebellar ataxia type 1 2017-07-31 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000736061 SCV000864276 likely benign not specified 2017-10-30 criteria provided, single submitter clinical testing BS1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools.

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