ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.874+1G>T

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004515753 SCV005016365 likely pathogenic Achromatopsia 4 2024-04-24 criteria provided, single submitter clinical testing

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