ClinVar Miner

Submissions for variant NM_006946.3(SPTBN2):c.1310G>A (p.Arg437Gln) (rs1554986337)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658607 SCV000780385 likely pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677650 SCV000803781 likely pathogenic Spinocerebellar ataxia type 5 2017-10-11 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000658607 SCV001762053 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing

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