Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000960341 | SCV001107309 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001289057 | SCV001476615 | benign | not specified | 2019-10-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003943100 | SCV004760788 | likely benign | INF2-related condition | 2019-12-19 | 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). |