Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218959 | SCV000270081 | likely benign | not specified | 2017-07-13 | criteria provided, single submitter | clinical testing | p.Gly976Gly in exon 40 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 10/19488 Africa n chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org; dbSNP rs147004824). |
Gene |
RCV001722156 | SCV000721445 | likely benign | not provided | 2020-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001722156 | SCV002370936 | likely benign | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003929886 | SCV004744252 | likely benign | COL11A2-related condition | 2020-02-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |