ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)

gnomAD frequency: 0.00007  dbSNP: rs142855690
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000356617 SCV000341294 uncertain significance not provided 2016-04-13 criteria provided, single submitter clinical testing
Invitae RCV001086169 SCV001008218 likely benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001086169 SCV001327047 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193196 SCV001361893 likely benign not specified 2019-06-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001449929 SCV001653342 likely benign Polycystic kidney disease 4 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000356617 SCV002545426 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing PKHD1: BP4, BP7
Natera, Inc. RCV001086169 SCV001453254 likely benign Autosomal recessive polycystic kidney disease 2020-05-01 no assertion criteria provided 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.