ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.271+1delinsTCAC

dbSNP: rs2060611603
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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 RCV001283767 SCV001520449 pathogenic MHC class II deficiency 2019-12-02 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283767 SCV001469136 pathogenic MHC class II deficiency 2020-08-07 no assertion criteria provided clinical testing

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