ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4138_4164del (p.Val1380_Glu1388del)

dbSNP: rs2544824510
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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 RCV003991261 SCV004808587 uncertain significance Polycystic kidney disease, adult type 2024-03-15 criteria provided, single submitter clinical testing ACMG Criteria: PM4,PM2_SUP,PP4

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