ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10221-14C>T

gnomAD frequency: 0.00029  dbSNP: rs201207354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002503279 SCV002809527 likely benign Polycystic kidney disease, adult type 2022-01-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002503279 SCV005913885 likely benign Polycystic kidney disease, adult type 2023-01-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001794946 SCV002033824 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001794946 SCV002036002 likely benign not provided no assertion criteria provided clinical testing

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