ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.351G>T (p.Ala117=)

gnomAD frequency: 0.00001  dbSNP: rs746239603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463795 SCV001667743 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2023-07-08 criteria provided, single submitter clinical testing

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