ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser)

gnomAD frequency: 0.00003  dbSNP: rs368513591
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984997 SCV001132925 uncertain significance Achromatopsia 2 2019-08-25 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579698 SCV001808181 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579698 SCV001956391 pathogenic not provided no assertion criteria provided clinical testing

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