ClinVar Miner

Submissions for variant NM_001382267.1(SERPINA12):c.631C>T (p.Arg211Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003395750 SCV004130298 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SERPINA12: BS2
Institute for Human Genetics, University Medical Center Freiburg RCV003319151 SCV004022295 pathogenic Hereditary palmoplantar keratoderma, Gamborg-Nielsen type no assertion criteria provided literature only

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