Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000189564 | SCV000152814 | benign | not specified | 2018-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704027 | SCV000243207 | benign | not provided | 2019-11-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087770 | SCV000639906 | likely benign | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000189564 | SCV000856639 | likely benign | not specified | 2017-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945058 | SCV004757209 | likely benign | SRPX2-related condition | 2023-06-07 | 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). |