ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7664T>G (p.Val2555Gly)

dbSNP: rs2544777388
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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 RCV004556897 SCV005045545 likely pathogenic Polycystic kidney disease, adult type 2023-09-18 criteria provided, single submitter clinical testing ACMG Criteria: PP3_STR,PM2_SUP,PM5_SUP,PP4

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