ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)

gnomAD frequency: 0.00013  dbSNP: rs183090717
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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 RCV002506828 SCV002801003 likely benign Polycystic kidney disease, adult type 2021-12-14 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795696 SCV002035852 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795696 SCV002038162 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948734 SCV004771412 likely benign PKD1-related disorder 2019-03-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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