ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4872C>G (p.Tyr1624Ter)

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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, Univ. Regensburg, Univ. Regensburg RCV004814454 SCV005071507 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing

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