ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)

dbSNP: rs1555208870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000518898 SCV000616597 pathogenic Joubert syndrome 5 2017-05-09 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543580 SCV001762247 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing

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