ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.3255C>G (p.Tyr1085Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005049829 SCV005682882 likely pathogenic X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 2024-05-24 criteria provided, single submitter clinical testing

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