ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.595T>C (p.Leu199=)

gnomAD frequency: 0.00044  dbSNP: rs149173957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624929 SCV000743125 likely benign Immunodeficiency 27A 2017-09-20 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000624929 SCV000744129 likely benign Immunodeficiency 27A 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV002060694 SCV002405569 likely benign Immunodeficiency 28 2023-12-11 criteria provided, single submitter clinical testing

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