ClinVar Miner

Submissions for variant NM_021035.3(ZNFX1):c.397A>T (p.Lys133Ter)

dbSNP: rs1981392635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001789747 SCV005326550 pathogenic Immunodeficiency 91 and hyperinflammation 2024-09-24 criteria provided, single submitter clinical testing
OMIM RCV001789747 SCV002032158 pathogenic Immunodeficiency 91 and hyperinflammation 2021-12-09 no assertion criteria provided literature only

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