ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1543G>T (p.Gly515Trp)

dbSNP: rs1555458704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281155 SCV001425163 likely pathogenic Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697091 SCV005197165 likely pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing

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