ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.1617G>C (p.Leu539=)

gnomAD frequency: 0.00044  dbSNP: rs145297759
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085549 SCV000776797 benign Autosomal dominant polycystic kidney disease 2024-01-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000654893 SCV001145031 benign not provided 2019-05-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154635 SCV001316012 likely benign Polycystic kidney disease 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000654893 SCV001781987 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17574468)
Fulgent Genetics, Fulgent Genetics RCV001154635 SCV002808464 likely benign Polycystic kidney disease 2 2021-07-21 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.