ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile)

dbSNP: rs1574390811
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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 RCV001029799 SCV004807864 likely pathogenic Achromatopsia 2 2024-03-29 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029799 SCV001192578 likely pathogenic Achromatopsia 2 2019-06-04 no assertion criteria provided clinical testing

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