ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3904G>A (p.Ala1302Thr)

dbSNP: rs139993510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001795722 SCV005333539 uncertain significance not provided 2024-02-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005006057 SCV005643323 uncertain significance Polycystic kidney disease, adult type 2024-06-17 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795722 SCV002036919 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795722 SCV002038072 likely benign not provided no assertion criteria provided clinical testing

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