ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)

gnomAD frequency: 0.00002  dbSNP: rs1300272809
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002293271 SCV005640689 uncertain significance Polycystic kidney disease, adult type 2024-06-24 criteria provided, single submitter clinical testing
Prenatal Diagnosis Center, Inner Mongolia Medical University RCV002293271 SCV002584984 pathogenic Polycystic kidney disease, adult type 2021-03-18 no assertion criteria provided clinical testing

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