ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.271+6C>T

gnomAD frequency: 0.00036  dbSNP: rs200052796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648870 SCV000770691 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932373 SCV004765285 likely benign NCF4-related disorder 2022-03-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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