ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg)

dbSNP: rs368281475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000985219 SCV004804768 uncertain significance MHC class II deficiency 2024-03-17 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985219 SCV001133249 uncertain significance MHC class II deficiency 2019-09-26 no assertion criteria provided clinical testing

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