ClinVar Miner

Submissions for variant NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)

gnomAD frequency: 0.00127  dbSNP: rs151043891
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152755 SCV000202142 benign not specified 2014-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000826947 SCV000968547 likely benign not provided 2018-04-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000826947 SCV001014803 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000152755 SCV002066089 benign not specified 2017-12-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498722 SCV002809522 likely benign FRAXE 2022-01-10 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251879 SCV001427625 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000826947 SCV001741620 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000826947 SCV001797851 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000152755 SCV001928865 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000826947 SCV002037675 likely benign not provided 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.