Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000144349 | SCV002540703 | benign | Angelman syndrome | 2022-06-30 | reviewed by expert panel | curation | The allele frequency of the c.417A>T p.(Ala139=) variant in UBE3A (NM_130838.2) is 9.85% in African/African-American sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the c.417A>T p.(Ala139=) variant in UBE3A is classified as Benign based on the ACMG/AMP criteria (BA1). |
Eurofins Ntd Llc |
RCV000082350 | SCV000114313 | benign | not specified | 2015-03-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000082350 | SCV000169707 | benign | not specified | 2016-06-14 | 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. |
Genetic Services Laboratory, |
RCV000082350 | SCV000195378 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000144349 | SCV000559142 | benign | Angelman syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311731 | SCV000845917 | benign | Inborn genetic diseases | 2016-03-13 | 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. |
Baylor Genetics | RCV000144349 | SCV000188526 | uncertain significance | Angelman syndrome | 2014-02-14 | no assertion criteria provided | clinical testing | possible diagnosis of Angelman syndrome |