ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly)

dbSNP: rs371919862
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328564 SCV001519712 uncertain significance Spinocerebellar ataxia type 5 2020-06-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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