ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)

gnomAD frequency: 0.00002  dbSNP: rs375603741
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
Eurofins Ntd Llc (ga) RCV000343380 SCV000336516 uncertain significance not provided 2015-10-23 criteria provided, single submitter clinical testing
Invitae RCV001083769 SCV001009072 likely benign Autosomal recessive polycystic kidney disease 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083769 SCV001321870 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001449587 SCV001652738 likely benign Polycystic kidney disease 4 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083769 SCV001463502 uncertain significance Autosomal recessive polycystic kidney disease 2018-08-15 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.