ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.1148G>T (p.Gly383Val)

dbSNP: rs755772831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706800 SCV001934305 uncertain significance Immunodeficiency 67 2020-08-27 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_016123.3:c.877C>T.

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