ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2321_2330del (p.Glu774fs)

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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 RCV003326206 SCV004032275 likely pathogenic Retinitis pigmentosa 3 2023-08-08 criteria provided, single submitter clinical testing Criteria applied: PVS1_STR,PS4_MOD,PM2_SUP

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