ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.33-6G>A

gnomAD frequency: 0.00006  dbSNP: rs200865261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591438 SCV000706600 uncertain significance not provided 2017-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078876 SCV001111598 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2024-01-08 criteria provided, single submitter clinical testing

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