ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.-56C>T

gnomAD frequency: 0.00029  dbSNP: rs527588843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307159 SCV000373439 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693054 SCV005190385 uncertain significance not provided criteria provided, single submitter not provided

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