ClinVar Miner

Submissions for variant NM_000416.2(IFNGR1):c.42G>A (p.Val14=) (rs17181471)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000279435 SCV000460590 uncertain significance Familial Atypical Mycobacteriosis, Autosomal Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030043 SCV000052698 likely benign Interferon gamma receptor deficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000542863 SCV000636216 benign Disseminated atypical mycobacterial infection 2017-12-04 criteria provided, single submitter clinical testing

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