ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys) (rs104895440)

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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 RCV000658747 SCV000780536 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084100 SCV000116231 not provided Blau syndrome no assertion provided not provided

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