ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) (rs142959373)

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 RCV000235907 SCV000294248 benign Fanconi anemia 2017-12-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375315 SCV000481917 likely benign VACTERL association with hydrocephalus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292661 SCV000481918 likely benign Fanconi Anemia, X-Linked 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437503 SCV000510657 likely benign not provided 2016-12-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000720996 SCV000851880 uncertain significance History of neurodevelopmental disorder 2012-10-03 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.