ClinVar Miner

Submissions for variant NM_001039396.2(MPEG1):c.1290C>A (p.Tyr430Ter)

dbSNP: rs1401529138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255987 SCV001432768 uncertain significance MPEG1-related immunodeficiency 2020-02-18 criteria provided, single submitter clinical testing
OMIM RCV001338479 SCV001532146 pathogenic Immunodeficiency 77 2021-03-19 no assertion criteria provided literature only

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