ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1541del (p.Pro514fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090854 SCV001246612 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001090854 SCV001762240 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001283800 SCV001469189 pathogenic Retinitis pigmentosa 54 2020-09-10 no assertion criteria provided clinical testing

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