ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.573T>G (p.Tyr191Ter)

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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 RCV004784890 SCV005397109 likely pathogenic Cone-rod dystrophy 2 2024-10-01 criteria provided, single submitter clinical testing

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