ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu)

dbSNP: rs1482793424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001759636 SCV001985705 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV000844960 SCV000986785 not provided Congenital muscular dystrophy due to integrin alpha-7 deficiency no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 05/09/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.