ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=)

gnomAD frequency: 0.00004  dbSNP: rs374787500
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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 RCV000300818 SCV000373419 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520741 SCV003495778 likely benign not provided 2022-02-08 criteria provided, single submitter clinical testing

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