ClinVar Miner

Submissions for variant NM_005861.4(STUB1):c.346A>G (p.Asn116Asp)

dbSNP: rs1456416134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531218 SCV001746233 uncertain significance not provided 2021-05-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003458070 SCV004176839 uncertain significance Autosomal recessive spinocerebellar ataxia 16 2023-12-19 criteria provided, single submitter clinical testing

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