ClinVar Miner

Submissions for variant NM_003194.5(TBP):c.216_218del (p.Gln95del)

dbSNP: rs71815788
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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 RCV000625151 SCV000743885 benign Spinocerebellar ataxia type 17 2016-05-04 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625151 SCV000745315 benign Spinocerebellar ataxia type 17 2015-04-03 criteria provided, single submitter clinical testing
GeneDx RCV001683617 SCV001902311 benign not provided 2021-06-09 criteria provided, single submitter clinical testing

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