ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) (rs1064797128)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488313 SCV000574804 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199680 SCV001162494 pathogenic Leber congenital amaurosis 2020-01-09 criteria provided, single submitter research

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