Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723637 | SCV000114212 | uncertain significance | not provided | 2015-10-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082263 | SCV000596698 | likely benign | not specified | 2016-01-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000723637 | SCV002366834 | likely benign | not provided | 2023-04-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935070 | SCV004753665 | likely benign | RAI1-related condition | 2019-11-06 | 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). |