Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128323 | SCV000171916 | benign | not specified | 2013-01-15 | 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. |
Genetic Services Laboratory, |
RCV000128323 | SCV000249066 | uncertain significance | not specified | 2014-08-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000230027 | SCV000287893 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000128323 | SCV000340631 | likely benign | not specified | 2016-04-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430704 | SCV004160749 | benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | STXBP1: BS1, BS2 |
Diagnostic Laboratory, |
RCV000616011 | SCV000734642 | likely benign | Developmental and epileptic encephalopathy, 4 | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000128323 | SCV001931437 | benign | not specified | no assertion criteria provided | clinical testing |