ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)

dbSNP: rs1554984881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000578450 SCV002580378 uncertain significance Spinocerebellar ataxia type 5 2021-12-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001815002 SCV002061975 uncertain significance not specified 2017-09-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992843 SCV001145406 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, TUM University Hospital RCV000578450 SCV000680394 likely pathogenic Spinocerebellar ataxia type 5 2017-09-08 criteria provided, single submitter clinical testing

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