ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)

dbSNP: rs769045618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992617 SCV001145024 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV001374451 SCV001571325 likely pathogenic Polycystic kidney disease, adult type 2021-03-12 criteria provided, single submitter clinical testing Family studies suggest that this variant segregated with autosomal dominant polycystic kidney disease (ADPKD) .
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001374451 SCV005416839 uncertain significance Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2

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