Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082646 | SCV000114688 | benign | not specified | 2013-05-09 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082646 | SCV000152395 | benign | not specified | 2015-08-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000082646 | SCV000171201 | benign | not specified | 2013-12-11 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000224146 | SCV000280979 | likely benign | not provided | 2016-04-21 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Labcorp Genetics |
RCV001082873 | SCV000291480 | benign | Episodic kinesigenic dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311740 | SCV000845845 | benign | Inborn genetic diseases | 2016-07-07 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV000224146 | SCV001150889 | likely benign | not provided | 2024-10-01 | criteria provided, single submitter | clinical testing | PRRT2: PM5, BS1, BS2 |
Athena Diagnostics | RCV000082646 | SCV001475995 | benign | not specified | 2019-12-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505010 | SCV002810577 | likely benign | Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000224146 | SCV005215749 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000224146 | SCV001740471 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000224146 | SCV001799297 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000224146 | SCV001930543 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000224146 | SCV001956807 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV002274919 | SCV002562840 | uncertain significance | Seizure | no assertion criteria provided | clinical testing |