ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.375_376del (p.Tyr125_Asn126delinsTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989907 SCV004805971 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2024-03-25 criteria provided, single submitter clinical testing

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