ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10698GGCTGT[1] (p.3567AV[1])

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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 RCV004566387 SCV005043166 likely pathogenic Polycystic kidney disease, adult type 2023-03-03 criteria provided, single submitter clinical testing ACMG Criteria: PS1_MOD, PM4, PM2_SUP, PP4

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