ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9430G>C (p.Gly3144Arg)

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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 RCV004556917 SCV005045565 likely pathogenic Polycystic kidney disease, adult type 2022-03-10 criteria provided, single submitter clinical testing ACMG Criteria: PM5, PS4_SUP, PM2_SUP, PP3, PP4 (ACMG Version 3)

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