ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys)

gnomAD frequency: 0.00001  dbSNP: rs145702618
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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 RCV000306197 SCV000373399 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
New York Genome Center RCV002275009 SCV002564233 uncertain significance Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 2021-09-27 criteria provided, single submitter clinical testing

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