Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145515 | SCV000192603 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000469300 | SCV000558805 | benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000145515 | SCV000722301 | likely benign | not specified | 2017-08-23 | 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. |
Ambry Genetics | RCV002316921 | SCV000851921 | benign | Inborn genetic diseases | 2017-10-26 | 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. |
Ce |
RCV003884359 | SCV004701425 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | CDKL5: BS2 |
Prevention |
RCV003952692 | SCV004776597 | likely benign | CDKL5-related condition | 2021-06-07 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Rett |
RCV000145515 | SCV000188331 | benign | not specified | 2014-05-09 | no assertion criteria provided | curation | Benign variation, found in normal male relative; in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = benign, AlignGVGD = pathogenic (C65) |