ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1190G>T (p.Gly397Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795470 SCV005418661 likely pathogenic Achromatopsia 2 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PP4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004795470 SCV005420633 likely pathogenic Achromatopsia 2 2024-10-04 criteria provided, single submitter research PM1,PM2,PP3,PM3-Moderate,PP1

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