ClinVar Miner

Submissions for variant NM_018474.6(KIZ):c.1326A>G (p.Glu442=)

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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 RCV003890414 SCV004707006 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003909223 SCV004727241 likely benign KIZ-related disorder 2020-07-29 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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