ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2285G>A (p.Trp762Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004699067 SCV005200927 likely pathogenic Polycystic kidney disease, adult type 2024-04-11 criteria provided, single submitter clinical testing PVS1, PM2

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