ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu)

gnomAD frequency: 0.00545  dbSNP: rs1802498
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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 RCV000525677 SCV000411301 likely benign MHC class II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525677 SCV000649565 benign MHC class II deficiency 2024-01-31 criteria provided, single submitter clinical testing

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