Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878790 | SCV001021754 | likely benign | Marshall-Smith syndrome; Malan overgrowth syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908370 | SCV004718273 | likely benign | NFIX-related disorder | 2019-06-13 | 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). |