ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.271+1G>C

dbSNP: rs759667201
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261596 SCV001438870 likely pathogenic MHC class II deficiency criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001261596 SCV003924292 pathogenic MHC class II deficiency 2023-05-08 criteria provided, single submitter research
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004018579 SCV005016533 pathogenic MHC class II deficiency 3 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV004576879 SCV000027174 pathogenic MHC class II deficiency 2 2001-05-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001261596 SCV001469138 pathogenic MHC class II deficiency 2020-08-07 no assertion criteria provided clinical testing

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