ClinVar Miner

Submissions for variant NM_001168272.1(ITPR1):c.2235G>T (p.Leu745=) (rs375801584)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000366117 SCV000444934 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712016 SCV000842429 benign not provided 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV000712016 SCV001050990 benign not provided 2018-12-11 criteria provided, single submitter clinical testing

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