ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.830G>A (p.Arg277His) (rs778114016)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073764 SCV001239324 pathogenic Retinal dystrophy 2017-12-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092741 SCV001249383 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985209 SCV001133237 pathogenic Achromatopsia 2 2019-09-26 no assertion criteria provided clinical testing

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