ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.1472del (p.Leu491fs)

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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 Munich, Klinikum Rechts Der Isar, TU München RCV002468771 SCV002764851 likely pathogenic Retinitis pigmentosa 66 2019-06-07 criteria provided, single submitter clinical testing

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