ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.544A>G (p.Asn182Asp)

dbSNP: rs2104229884
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729886 SCV001571272 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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