ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10945C>T (p.Pro3649Ser)

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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 RCV004555278 SCV005044251 uncertain significance Polycystic kidney disease, adult type 2022-05-04 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PM5_SUP, PP4 (ACMG Version 3)

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