ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3214-6C>G

gnomAD frequency: 0.00005  dbSNP: rs750991541
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
Eurofins Ntd Llc (ga) RCV000729263 SCV000856910 uncertain significance not provided 2017-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729263 SCV001083000 benign not provided 2024-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420291 SCV004115655 uncertain significance ABCB11-related disorder 2023-07-13 criteria provided, single submitter clinical testing The ABCB11 c.3214-6C>G variant is predicted to interfere with splicing. This variant has been previously reported in the compound heterozygous state in an individual with progressive intrahepatic cholestasis (Table 1, Liu et al. 2010. PubMed ID: 19845854). This variant is reported in 0.23% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-169787378-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.