ClinVar Miner

Submissions for variant NM_018013.4(SOBP):c.1810C>A (p.Gln604Lys)

gnomAD frequency: 0.00086  dbSNP: rs368271940
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118396 SCV000152796 uncertain significance not provided 2013-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000118396 SCV001029601 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333984 SCV001526713 uncertain significance Intellectual disability, anterior maxillary protrusion, and strabismus 2018-06-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.