ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.1060-1G>T

dbSNP: rs863223339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences RCV000201503 SCV000223710 pathogenic Retinitis pigmentosa 2015-01-01 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268564 SCV001447571 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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