ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser)

dbSNP: rs786205532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003984823 SCV004801179 pathogenic Achromatopsia 2 2024-03-14 criteria provided, single submitter research
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171302 SCV000221499 likely pathogenic not provided flagged submission research

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