ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1100G>T (p.Gly367Val)

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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 RCV003333703 SCV004041574 likely pathogenic Achromatopsia 2 2023-10-06 criteria provided, single submitter clinical testing

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