ClinVar Miner

Submissions for variant NM_005419.4(STAT2):c.820C>T (p.Gln274Ter)

dbSNP: rs1878457865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330058 SCV001521651 pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2020-07-09 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001330058 SCV004805745 pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2024-03-29 criteria provided, single submitter clinical testing

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