ClinVar Miner

Submissions for variant NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) (rs182840163)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000298823 SCV000343829 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262699 SCV000444958 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625898 SCV000746477 likely pathogenic Spinocerebellar ataxia type 15/16 2017-12-03 criteria provided, single submitter clinical testing

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