Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720033 | SCV000517358 | likely benign | not provided | 2021-03-06 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000437552 | SCV000595260 | likely benign | not specified | 2016-08-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000624706 | SCV000741191 | uncertain significance | Inborn genetic diseases | 2015-12-30 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected |
Invitae | RCV000926337 | SCV001071897 | benign | Intellectual disability, X-linked 1 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001720033 | SCV004166432 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | IQSEC2: PP2, BS2 |
Prevention |
RCV003959889 | SCV004769944 | likely benign | IQSEC2-related condition | 2019-07-15 | 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). |