ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) (rs7766366)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082576 SCV000114618 benign not specified 2013-09-06 criteria provided, single submitter clinical testing
Counsyl RCV000169040 SCV000220198 likely benign Autosomal recessive polycystic kidney disease 2014-03-27 criteria provided, single submitter literature only
Invitae RCV000169040 SCV000260340 benign Autosomal recessive polycystic kidney disease 2019-12-31 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000082576 SCV000297372 likely benign not specified 2015-10-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082576 SCV000315834 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000169040 SCV000803474 benign Autosomal recessive polycystic kidney disease 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Polycystic kidney disease 4 with or without polycystic liver disease, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Illumina Clinical Services Laboratory,Illumina RCV000169040 SCV001327302 benign Autosomal recessive polycystic kidney disease 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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.