ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)

dbSNP: rs541484241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, TUM University Hospital RCV000995650 SCV001149944 likely pathogenic Spinocerebellar ataxia type 5 2018-12-27 criteria provided, single submitter clinical testing

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