ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.2863G>A (p.Val955Ile) (rs5743291)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000755646 SCV000883045 likely benign Blau syndrome; Inflammatory bowel disease 1; Psoriatic arthritis, susceptibility to; Yao syndrome 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374813 SCV000397303 benign Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279812 SCV000397304 benign Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084126 SCV000116257 not provided Sarcoidosis, early-onset no assertion provided not provided

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