ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1736T>G (p.Leu579Arg)

dbSNP: rs2104250058
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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 RCV004815491 SCV005069249 likely pathogenic Retinal dystrophy 2013-01-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729877 SCV001571310 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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