ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1121G>A (p.Arg374His) (rs145520044)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487851 SCV000575235 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Invitae RCV000652116 SCV000773984 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2017-11-22 criteria provided, single submitter clinical testing

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