ClinVar Miner

Submissions for variant NM_001557.4(CXCR2):c.623G>A (p.Arg208Gln)

gnomAD frequency: 0.00001  dbSNP: rs1273183086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Facility, Ludwig-Maximilians-Universität München RCV001824265 SCV002073916 likely pathogenic WHIM syndrome 2 2021-12-28 criteria provided, single submitter clinical testing

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