ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.790G>A (p.Asp264Asn)

gnomAD frequency: 0.00002  dbSNP: rs104895424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003480058 SCV004227581 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing PS3_moderate
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084139 SCV000116270 not provided Blau syndrome no assertion provided not provided

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