ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1347G>A (p.Lys449=)

gnomAD frequency: 0.00001  dbSNP: rs778251470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002550196 SCV003459669 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729904 SCV001571322 uncertain significance Achromatopsia 2 2021-04-15 no assertion criteria provided research

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