ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.506C>A (p.Pro169His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989878 SCV004805914 uncertain significance Achromatopsia 4 2024-03-25 criteria provided, single submitter clinical testing

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