ClinVar Miner

Submissions for variant NM_001168272.1(ITPR1):c.3412A>G (p.Met1138Val) (rs199698357)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415780 SCV000493438 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363994 SCV000444951 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Schule lab,Hertie Institute for Clinical Brain Research RCV000677357 SCV000700179 likely benign Spinocerebellar ataxia 29 2018-02-09 criteria provided, single submitter research

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