ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.384C>T (p.Gly128=)

dbSNP: rs72547285
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734389 SCV000862525 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001241945 SCV001415001 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001241945 SCV002781950 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825482 SCV002089431 uncertain significance Chronic granulomatous disease 2019-10-28 no assertion criteria provided clinical testing

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