ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.237G>C (p.Leu79=)

gnomAD frequency: 0.03976  dbSNP: rs2228472
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254035 SCV000302284 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534259 SCV000641915 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001723831 SCV001950472 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723831 SCV005249676 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274002 SCV001457684 benign Chronic granulomatous disease 2020-09-16 no assertion criteria provided clinical testing

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