ClinVar Miner

Submissions for variant NM_018474.6(KIZ):c.86_89+19del

dbSNP: rs2031451980
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town RCV001089482 SCV000998478 pathogenic Retinitis pigmentosa 69 2019-10-23 criteria provided, single submitter clinical testing

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