Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000885972 | SCV001029453 | benign | not provided | 2018-07-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000885972 | SCV004150564 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | CBLB: BP4, BS2 |
Prevention |
RCV003915193 | SCV004734883 | likely benign | CBLB-related condition | 2019-02-21 | 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). |
ITMI | RCV000120475 | SCV000084628 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |