ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)

dbSNP: rs752212470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171164 SCV000221360 likely pathogenic not provided criteria provided, single submitter research
Genome-Nilou Lab RCV001563787 SCV001786815 uncertain significance Leber congenital amaurosis 8 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563788 SCV001786816 uncertain significance Retinitis pigmentosa 12 2021-07-14 criteria provided, single submitter clinical testing

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