ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)

dbSNP: rs1571522690
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986487 SCV001135499 uncertain significance Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001759677 SCV001985385 uncertain significance not provided 2018-12-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29053603, 17724218)
Genome-Nilou Lab RCV003454999 SCV004179901 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455000 SCV004179902 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454998 SCV004179904 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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