ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr)

gnomAD frequency: 0.00007  dbSNP: rs201356986
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001063853 SCV001228716 likely benign Granulomatous disease, chronic, X-linked 2024-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222665 SCV002500074 uncertain significance not specified 2022-03-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274392 SCV001458509 uncertain significance Chronic granulomatous disease 2020-09-16 no assertion criteria provided clinical testing

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