ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1328C>T (p.Ala443Val)

gnomAD frequency: 0.00003  dbSNP: rs535399366
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005399271 SCV006052490 uncertain significance Polycystic kidney disease, adult type 2024-12-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151601 SCV003839846 likely benign not specified 2022-06-13 no assertion criteria provided clinical testing

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