ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.222G>A (p.Gly74=)

dbSNP: rs377510654
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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 RCV001415091 SCV001617240 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2023-11-17 criteria provided, single submitter clinical testing

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