ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002287700 SCV002577838 uncertain significance Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2021-12-10 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3

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