ClinVar Miner

Submissions for variant NM_002312.3(LIG4):c.8C>T (p.Ala3Val) (rs1805389)

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
GeneDx RCV000126630 SCV000170137 benign not specified 2013-02-28 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 RCV000400690 SCV000382240 likely benign Lig4 syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284646 SCV000382241 likely benign Severe combined immunodeficiency with sensitivity to ionizing radiation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000860308 SCV001000325 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
OMIM RCV000008115 SCV000028320 protective Multiple myeloma, resistance to 2002-12-01 no assertion criteria provided literature only

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.