ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.306G>A (p.Thr102=)

gnomAD frequency: 0.00003  dbSNP: rs372791883
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 RCV000868845 SCV001010221 likely benign Legius syndrome 2024-01-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192641 SCV001360895 likely benign not specified 2019-09-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813558 SCV002060919 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442838 SCV002753259 likely benign Cardiovascular phenotype 2022-09-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000868845 SCV004563193 likely benign Legius syndrome 2022-12-19 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.