ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) (rs56234888)

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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224227 SCV000281459 benign not provided 2016-04-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175365 SCV000226838 benign not specified 2015-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000175365 SCV000517335 benign not specified 2015-08-31 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.
Illumina Clinical Services Laboratory,Illumina RCV000264893 SCV000473588 likely benign Nonsyndromic Trigonocephaly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322415 SCV000473589 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356059 SCV000473590 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263686 SCV000473591 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316400 SCV000473592 likely benign Osteoglophonic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000529173 SCV000644851 benign Kallmann syndrome 2; Pfeiffer syndrome 2017-11-10 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000677340 SCV000803628 likely benign Kallmann syndrome 2 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Benign, for hypogonadotropic hypogonadism 2 with or without anosmia, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2-Supporting => BS2 downgraded in strength to supporting.

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.