ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2178dup (p.Glu727fs)

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Total submissions: 2
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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 RCV003225831 SCV003807655 likely pathogenic Polycystic kidney disease 2 2022-08-26 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated
Fulgent Genetics, Fulgent Genetics RCV003225831 SCV005668042 pathogenic Polycystic kidney disease 2 2024-04-20 criteria provided, single submitter clinical testing

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