ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg)

gnomAD frequency: 0.00006  dbSNP: rs104895420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514487 SCV001635539 likely benign Blau syndrome; Regional enteritis 2024-01-11 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084135 SCV000116266 not provided Blau syndrome no assertion provided not provided

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