Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513399 | SCV000609309 | uncertain significance | not provided | 2017-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001422870 | SCV001625429 | likely benign | Febrile seizures, familial, 11 | 2021-07-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925519 | SCV004743966 | likely benign | CPA6-related condition | 2019-09-13 | 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). |