Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000426092 | SCV000171198 | benign | not provided | 2018-11-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23063574, 23496026, 28525812, 23529024, 23436308, 22101681, 23532549, 25522171, 31124310) |
Eurofins Ntd Llc |
RCV000118065 | SCV000203359 | benign | not specified | 2014-04-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000118065 | SCV000307124 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Center for Pediatric Genomic Medicine, |
RCV000426092 | SCV000510713 | benign | not provided | 2016-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080628 | SCV000554859 | benign | Episodic kinesigenic dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312240 | SCV000845846 | benign | Inborn genetic diseases | 2016-02-25 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Mendelics | RCV000471449 | SCV001140081 | benign | Episodic kinesigenic dyskinesia 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000426092 | SCV001145206 | benign | not provided | 2018-09-04 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118065 | SCV000152394 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |