ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.670A>G (p.Thr224Ala)

dbSNP: rs2104236067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815493 SCV005073300 likely pathogenic Retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729890 SCV001571276 uncertain significance Achromatopsia 2 2021-04-15 no assertion criteria provided research

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