ClinVar Miner

Submissions for variant NM_000538.3(RFXAP):c.*1826delT

gnomAD frequency: 0.00435  dbSNP: rs142735439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298303 SCV000383993 uncertain significance MHC class II deficiency 2016-06-14 criteria provided, single submitter clinical testing

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