ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu)

gnomAD frequency: 0.00001  dbSNP: rs104893612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Palindrome, Gene Kavoshgaran Aria RCV000010081 SCV004814205 pathogenic Achromatopsia 2 2024-02-29 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814869 SCV005072570 likely pathogenic Retinal dystrophy 2020-01-01 criteria provided, single submitter clinical testing
OMIM RCV000010081 SCV000030302 pathogenic Achromatopsia 2 1998-07-01 no assertion criteria provided literature only

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