ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.2517G>A (p.Ser839=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept Of Ophthalmology, Nagoya University RCV003890808 SCV004705603 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003949101 SCV004758576 likely benign IMPG2-related disorder 2019-02-21 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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