ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.223_226dup (p.Gly76fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Seoul National University Bundang Hospital RCV005054972 SCV005688652 pathogenic Focal segmental glomerulosclerosis 7 2024-12-01 criteria provided, single submitter clinical testing The p.Gly76AspfsTer27 is a frameshft variant and is regarded as pathogenic (PVS1, PM2, PM6, according to ACMG criteria). It has been reported in the following publication (PMID: 32604935).

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