ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.74-7T>A (rs104895421)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202800 SCV000258187 uncertain significance not specified 2015-04-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302918 SCV000397170 likely benign Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357679 SCV000397171 likely benign Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000638071 SCV000759551 benign Blau syndrome; Inflammatory bowel disease 1 2017-12-19 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084137 SCV000116268 not provided Sarcoidosis, early-onset no assertion provided not provided

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