ClinVar Miner

Submissions for variant NM_012469.4(PRPF6):c.576G>C (p.Gln192His)

dbSNP: rs2059135246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253079 SCV001428603 uncertain significance Retinitis pigmentosa 60 2017-07-12 criteria provided, single submitter clinical testing

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