ClinVar Miner

Submissions for variant NM_006946.3(SPTBN2):c.1722G>A (p.Glu574=) (rs143083152)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271021 SCV000373410 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328646 SCV000373411 likely benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658605 SCV000780383 likely benign not provided 2018-01-01 criteria provided, single submitter clinical testing
Invitae RCV000658605 SCV001038645 benign not provided 2018-12-24 criteria provided, single submitter clinical testing

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