ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.15T>C (p.Gly5=)

gnomAD frequency: 0.00001  dbSNP: rs772887500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393909 SCV000383969 uncertain significance MHC class II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000393909 SCV002494798 likely benign MHC class II deficiency 2023-07-25 criteria provided, single submitter clinical testing

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