ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.379C>A (p.Arg127Ser)

gnomAD frequency: 0.00001  dbSNP: rs1471892749
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 RCV001346153 SCV001540329 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-08-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825924 SCV002089432 uncertain significance Chronic granulomatous disease 2021-04-13 no assertion criteria provided clinical testing

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