ClinVar Miner

Submissions for variant NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) (rs179363896)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421968 SCV000513275 likely benign not specified 2017-07-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000421968 SCV000885613 uncertain significance not specified 2018-08-14 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059070 SCV000090591 not provided not provided no assertion provided not provided
OMIM RCV001172486 SCV001335516 pathogenic Familial atypical mycobacteriosis, type 1, X-linked 2004-08-15 no assertion criteria provided literature only

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