ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1606+5G>T

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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 Human Genetics, Hannover Medical School RCV004720590 SCV005328376 likely pathogenic Polycystic kidney disease, adult type 2024-09-26 criteria provided, single submitter clinical testing ACMG: PM2_Supporting, PP4_Strong, PP3

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