Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000188828 | SCV000152607 | likely benign | not specified | 2019-07-03 | criteria provided, single submitter | clinical testing | |
Eurofins NTD LLC |
RCV000118242 | SCV000203498 | uncertain significance | not provided | 2014-04-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000118242 | SCV000242457 | benign | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 20729507, 18930999, 19522081, 28717674, 27881154, 26990884, 31765958, 32090326) |
Invitae | RCV001080063 | SCV000758058 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2020-12-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717643 | SCV000848497 | likely benign | History of neurodevelopmental disorder | 2018-08-14 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification |
Ce |
RCV000118242 | SCV000892303 | likely benign | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000059407 | SCV001136032 | uncertain significance | Severe myoclonic epilepsy in infancy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001133131 | SCV001292818 | uncertain significance | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001133132 | SCV001292819 | uncertain significance | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Uni |
RCV000059407 | SCV000090931 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided | ||
Diagnostic Laboratory, |
RCV000118242 | SCV001741044 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000118242 | SCV001930148 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118242 | SCV001971479 | likely benign | not provided | no assertion criteria provided | clinical testing |