ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.978G>A (p.Pro326=)

gnomAD frequency: 0.00181  dbSNP: rs17885407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530249 SCV000655056 benign Immunodeficiency 28 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093463 SCV001250470 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915627 SCV004734851 likely benign IFNGR2-related disorder 2020-03-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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