ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.117+19C>T

dbSNP: rs760778895
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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 RCV002121946 SCV002450835 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2023-01-19 criteria provided, single submitter clinical testing

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