ClinVar Miner

Submissions for variant NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly)

dbSNP: rs179363866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012224 SCV000032458 pathogenic Immunodeficiency 33 2007-01-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059072 SCV000090593 not provided not provided no assertion provided not provided

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