ClinVar Miner

Submissions for variant NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter)

dbSNP: rs2141125120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV001526868 SCV002574879 likely pathogenic Autoinflammatory syndrome with immunodeficiency 2022-09-22 criteria provided, single submitter clinical testing
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV001449968 SCV001653515 likely pathogenic not specified 2021-05-27 flagged submission not provided
OMIM RCV001526868 SCV001737558 pathogenic Autoinflammatory syndrome with immunodeficiency 2021-06-17 no assertion criteria provided literature only

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