ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1554T>A (p.Thr518=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144807 SCV003831579 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538913 SCV004749665 likely benign CEP290-related disorder 2023-10-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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