ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.405G>A (p.Leu135=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004540754 SCV004776964 likely benign PI4KA-related disorder 2022-05-27 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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