ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.196_197insA (p.Arg66fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797515 SCV005417813 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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