Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079570 | SCV000111452 | benign | not specified | 2012-08-09 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118241 | SCV000152603 | likely benign | not provided | 2015-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084539 | SCV000286279 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000268171 | SCV000417793 | likely benign | Epilepsy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000306839 | SCV000417794 | likely benign | Migraine, familial hemiplegic, 3 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Ambry Genetics | RCV002313759 | SCV000847484 | likely benign | Inborn genetic diseases | 2016-05-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Illumina Laboratory Services, |
RCV001133245 | SCV001292939 | likely benign | Generalized epilepsy with febrile seizures plus, type 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV000118241 | SCV001936546 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000118241 | SCV002496548 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | SCN1A: BP4, BP7, BS2 |
Prevention |
RCV003925048 | SCV004742042 | benign | SCN1A-related condition | 2019-09-09 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV000118241 | SCV001926967 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000118241 | SCV001951315 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000118241 | SCV002036366 | likely benign | not provided | no assertion criteria provided | clinical testing |