ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.1172G>A (p.Arg391His) (rs554887705)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000297632 SCV000397213 likely benign Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354848 SCV000397214 likely benign Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000638070 SCV000759550 likely benign Blau syndrome; Inflammatory bowel disease 1 2017-08-11 criteria provided, single submitter clinical testing

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