ClinVar Miner

Submissions for variant NM_000587.4(C7):c.1909_1911dup (p.Met637dup)

dbSNP: rs761491305
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001968733 SCV002249109 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing This variant, c.1909_1911dup, results in the insertion of 1 amino acid(s) of the C7 protein (p.Met637dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs761491305, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with C7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1467907). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005032038 SCV005673454 uncertain significance Complement component 7 deficiency 2024-06-04 criteria provided, single submitter clinical testing

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.