ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)

gnomAD frequency: 0.00037  dbSNP: rs140662778
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663787 SCV001879440 benign not specified 2021-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506718 SCV002802908 likely benign Polycystic kidney disease, adult type 2021-11-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702949 SCV001927819 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702949 SCV001970347 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003956313 SCV004775692 likely benign PKD1-related disorder 2020-02-11 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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