ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV005001485 SCV005627511 likely pathogenic Polycystic kidney disease, adult type 2024-12-05 criteria provided, single submitter clinical testing Criteria applied: PM2,PS4_SUP,PM1_SUP,PP3,PP4
Fulgent Genetics, Fulgent Genetics RCV005001485 SCV005640801 likely pathogenic Polycystic kidney disease, adult type 2024-05-03 criteria provided, single submitter clinical testing

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