ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1086G>A (p.Ala362=)

gnomAD frequency: 0.00003  dbSNP: rs151250769
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719029 SCV000726430 likely benign not provided 2019-07-22 criteria provided, single submitter clinical testing
Invitae RCV001396656 SCV001598392 likely benign FGFR2-related craniosynostosis 2022-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498954 SCV002805869 likely benign Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer 2021-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544773 SCV004788072 likely benign FGFR2-related disorder 2019-02-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.