Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704231 | SCV000241016 | likely benign | not provided | 2019-09-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22190898) |
Invitae | RCV000918423 | SCV001063733 | likely benign | Rett syndrome, congenital variant | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965222 | SCV004784225 | likely benign | FOXG1-related condition | 2022-02-07 | 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). |
Rett |
RCV000170066 | SCV000222375 | benign | not specified | 2012-05-18 | no assertion criteria provided | curation |