Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726818 | SCV000703269 | uncertain significance | not provided | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726818 | SCV000722719 | likely benign | not provided | 2020-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726818 | SCV001038775 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962668 | SCV004779802 | likely benign | COL2A1-related condition | 2021-11-08 | 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). |