ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004698909 SCV005200636 uncertain significance Polycystic kidney disease, adult type 2024-07-12 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP,PP3,PP4

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