ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.535_546delinsT (p.Asn179fs)

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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 RCV005054966 SCV005688644 likely pathogenic Renal coloboma syndrome 2024-12-01 criteria provided, single submitter clinical testing The p.Asn179TrpfsTer17 variant is a novel frameshift variant and is regarded as likely pathogenic (PVS1, PM2, according to ACMG criteria).

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