ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His)

gnomAD frequency: 0.00001  dbSNP: rs372938259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001918073 SCV002167665 likely benign not provided 2022-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478308 SCV002787074 uncertain significance Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 2021-08-12 criteria provided, single submitter clinical testing

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