ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.765G>A (p.Val255=)

gnomAD frequency: 0.00165  dbSNP: rs113406972
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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 RCV000305379 SCV000411302 uncertain significance MHC class II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000305379 SCV000769755 benign MHC class II deficiency 2024-01-29 criteria provided, single submitter clinical testing

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