ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=)

gnomAD frequency: 0.00004  dbSNP: rs377661579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496055 SCV002797406 likely benign Polycystic kidney disease, adult type 2021-08-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730253 SCV001978217 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730253 SCV001980235 likely benign not provided no assertion criteria provided clinical testing

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