ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del)

dbSNP: rs765574129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199470 SCV001162479 pathogenic Achromatopsia 2020-01-09 criteria provided, single submitter research
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000497792 SCV000575790 uncertain significance Achromatopsia 3 2017-03-27 no assertion criteria provided research

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