ClinVar Miner

Submissions for variant NM_001040616.3(LINS1):c.431del (p.Leu144fs)

dbSNP: rs764442764
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514816 SCV000609765 likely pathogenic not provided 2017-05-03 criteria provided, single submitter clinical testing
New York Genome Center RCV001281524 SCV001468833 likely pathogenic Intellectual disability 2019-07-31 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814175 SCV002061447 likely pathogenic Intellectual disability, autosomal recessive 27 2021-04-06 criteria provided, single submitter clinical testing PVS1, PM2
GeneDx RCV000514816 SCV003761911 uncertain significance not provided 2023-01-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 31589614)

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.