ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.1287C>T (p.His429=)

gnomAD frequency: 0.00038  dbSNP: rs145524720
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
Genetic Services Laboratory, University of Chicago RCV000193588 SCV000247887 uncertain significance not specified 2015-01-12 criteria provided, single submitter clinical testing
Invitae RCV000913240 SCV001058383 likely benign Rafiq syndrome 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381653 SCV002691535 likely benign Inborn genetic diseases 2018-07-14 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.
CeGaT Center for Human Genetics Tuebingen RCV003436992 SCV004163981 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing MAN1B1: BP4, BP7

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.