ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.271+1G>C (rs759667201)

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Total submissions: 3
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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 Bare lymphocyte syndrome 2 criteria provided, single submitter clinical testing
OMIM RCV000006978 SCV000027174 pathogenic Bare lymphocyte syndrome, type II, complementation group B 2001-05-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001261596 SCV001469138 pathogenic Bare lymphocyte syndrome 2 2020-08-07 no assertion criteria provided clinical testing

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