Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726753 | SCV000702787 | uncertain significance | not provided | 2018-06-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000591639 | SCV000729727 | likely benign | not specified | 2017-12-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001088055 | SCV001021894 | benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335232 | SCV001528332 | uncertain significance | Norman-Roberts syndrome | 2018-01-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003905521 | SCV004726205 | likely benign | RELN-related condition | 2022-04-20 | 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). |