ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=)

gnomAD frequency: 0.00162  dbSNP: rs137925121
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999972 SCV000604734 benign Polycystic kidney disease, adult type 2018-10-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000508247 SCV000614516 benign not specified 2016-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001562562 SCV001785345 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24374109, 18837007)
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001562562 SCV001932284 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001562562 SCV001965218 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001562562 SCV002035516 likely benign not provided no assertion criteria provided clinical testing

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