ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.855G>A (p.Leu285=)

gnomAD frequency: 0.00018  dbSNP: rs782293433
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000939389 SCV001085233 benign Granulomatous disease, chronic, X-linked 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438604 SCV004164799 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing CYBB: BP4
Natera, Inc. RCV000939389 SCV001453003 uncertain significance Granulomatous disease, chronic, X-linked 2020-01-17 no assertion criteria provided clinical testing

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