Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712308 | SCV000535045 | likely benign | not provided | 2021-03-24 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000438224 | SCV000711003 | likely benign | not specified | 2017-02-28 | criteria provided, single submitter | clinical testing | c.4015-8T>C in intron 55 of COL11A2: This variant is not expected to have clinic al significance because a C>T/T>C change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. In a ddition, it has been identified in 0.3% (24/8124) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3770 01136). |
Invitae | RCV001712308 | SCV002431824 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942454 | SCV004757675 | likely benign | COL11A2-related condition | 2021-01-28 | 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). |