ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.984G>A (p.Lys328=)

gnomAD frequency: 0.00141  dbSNP: rs121913220
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
Invitae RCV001089246 SCV000774000 benign Immunodeficiency 28 2024-01-19 criteria provided, single submitter clinical testing
Human Evolutionary Genetics, Institut Pasteur RCV000097462 SCV000121676 not provided not provided no assertion provided not provided

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