ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val)

dbSNP: rs1262707163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000595133 SCV000700214 uncertain significance Achromatopsia 2018-03-20 criteria provided, single submitter research
Counsyl RCV000497341 SCV000795453 uncertain significance Achromatopsia 3 2017-11-08 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000497341 SCV000575815 uncertain significance Achromatopsia 3 2017-03-27 no assertion criteria provided research

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