ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.1331T>G (p.Ile444Ser) (rs2272946)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755963 SCV000883651 benign not provided 2017-07-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000254318 SCV000340577 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000254318 SCV000713737 benign not specified 2017-11-22 criteria provided, single submitter clinical testing p.Ile444Ser in exon 20 of COL4A5: This variant is not expected to have clinical significance because it has been identified in 34% (6123/17969) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs2272946). ACMG/AMP Criteria applied: BA1.
PreventionGenetics RCV000254318 SCV000304528 benign not specified criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021277 SCV000041943 benign Alport syndrome 1, X-linked recessive 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Benign.

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.