ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His)

gnomAD frequency: 0.00006  dbSNP: rs529514462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503011 SCV000597245 uncertain significance not specified 2016-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527293 SCV003517849 likely benign not provided 2022-07-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527292 SCV003677894 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing Unlikely to be causative of autosomal dominant SPTBN2-related spinocerebellar ataxia (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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