ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2460C>T (p.Ser820=)

gnomAD frequency: 0.00001  dbSNP: rs572822238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822198 SCV002064909 benign not specified 2018-09-17 criteria provided, single submitter clinical testing
Invitae RCV002074255 SCV002441707 benign Autosomal dominant polycystic kidney disease 2023-05-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503311 SCV002804386 likely benign Polycystic kidney disease 2 2021-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956390 SCV004769458 likely benign PKD2-related disorder 2019-12-31 criteria provided, single submitter 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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