ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.358dup (p.Ala120fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003130906 SCV003808008 likely pathogenic Focal segmental glomerulosclerosis 7 2022-03-29 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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