ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln)

dbSNP: rs2091577195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095556 SCV001251187 uncertain significance Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PM2, PP3, PP4, PP5
Fulgent Genetics, Fulgent Genetics RCV001095556 SCV005638758 likely pathogenic Polycystic kidney disease, adult type 2024-01-25 criteria provided, single submitter clinical testing

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