ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.1834G>A (p.Ala612Thr) (rs104895438)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271343 SCV000397238 likely benign Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328692 SCV000397239 likely benign Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000328692 SCV000025141 uncertain significance Blau syndrome 2005-02-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000004965 SCV000116228 not provided Sarcoidosis, early-onset no assertion provided not provided

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