ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) (rs794728002)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090853 SCV001246611 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001090853 SCV001762120 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
OMIM RCV000000125 SCV000020268 pathogenic Retinitis pigmentosa 54 2010-05-14 no assertion criteria provided literature only
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002902 SCV001160937 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Faculty of Health Sciences,Beirut Arab University RCV001257874 SCV001434625 pathogenic Autosomal recessive retinitis pigmentosa 2017-08-01 no assertion criteria provided literature only

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