ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.69C>T (p.Thr23=)

gnomAD frequency: 0.00004  dbSNP: rs529905180
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909443 SCV001054249 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271489 SCV001452678 uncertain significance Chronic granulomatous disease 2020-02-13 no assertion criteria provided clinical testing

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