ClinVar Miner

Submissions for variant NM_001168272.1(ITPR1):c.1435G>A (p.Val479Ile) (rs41289628)

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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 RCV000404837 SCV000444903 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000426259 SCV000511712 likely benign not provided 2016-06-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000426259 SCV000575338 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000426259 SCV001100862 benign not provided 2019-02-13 criteria provided, single submitter clinical testing

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