Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652639 | SCV000774510 | likely benign | Luscan-Lumish syndrome | 2020-04-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937986 | SCV004753201 | likely benign | SETD2-related condition | 2019-05-28 | 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). |