ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) (rs144693221)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000658641 SCV000603700 likely benign not provided 2017-07-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000658641 SCV000842019 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658641 SCV000780423 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000357650 SCV000340733 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000357650 SCV000513032 likely benign not specified 2017-07-31 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 RCV000168459 SCV000378192 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000168459 SCV000219158 likely benign Charcot-Marie-Tooth disease type 4 2017-12-26 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.