ClinVar Miner

Submissions for variant NM_007052.5(NOX1):c.721C>T (p.Arg241Cys)

gnomAD frequency: 0.00191  dbSNP: rs142303829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000906226 SCV001050849 likely benign not provided 2017-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906226 SCV004167240 benign not provided 2024-02-01 criteria provided, single submitter clinical testing NOX1: BS1, BS2
Institute of Clinical Molecular Biology, Kiel University RCV000736010 SCV000864163 likely pathogenic Very early onset inflammatory bowel disease 2018-11-06 no assertion criteria provided research

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