Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547348 | SCV000655716 | likely benign | Luscan-Lumish syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003436936 | SCV004154393 | benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | SETD2: BS1, BS2 |
Prevention |
RCV004530037 | SCV004721706 | likely benign | SETD2-related disorder | 2020-06-08 | 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). |
ITMI | RCV000122031 | SCV000086242 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |