ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.1281G>A (p.Pro427=) (rs104895430)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000376282 SCV000397217 uncertain significance Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265284 SCV000397218 uncertain significance Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584869 SCV000692854 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV000638073 SCV000759553 benign Blau syndrome; Inflammatory bowel disease 1 2017-12-26 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084080 SCV000116209 not provided Sarcoidosis, early-onset no assertion provided not provided

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