ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.3G>A (p.Met1Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005029387 SCV005659765 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2024-05-23 criteria provided, single submitter clinical testing

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