ClinVar Miner

Submissions for variant NM_020719.3(PRR12):c.656_657del (p.Leu219fs)

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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 RCV002286476 SCV002576425 likely pathogenic Neuroocular syndrome 2022-08-17 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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