Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000946246 | SCV001092359 | benign | Marshall-Smith syndrome; Malan overgrowth syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942994 | SCV004769219 | benign | NFIX-related disorder | 2019-11-13 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |