ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1672G>T (p.Gly558Cys) (rs749413012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670529 SCV000795391 uncertain significance Achromatopsia 3 2017-11-14 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000678547 SCV000804625 uncertain significance Retinitis pigmentosa 2016-09-01 no assertion criteria provided clinical testing

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