Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000168695 | SCV000170225 | benign | not specified | 2013-09-19 | 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. |
Eurofins Ntd Llc |
RCV000168695 | SCV000230272 | benign | not specified | 2014-12-02 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000168695 | SCV000247999 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080832 | SCV000556744 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312905 | SCV000848253 | benign | Inborn genetic diseases | 2016-11-16 | 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. |
Athena Diagnostics Inc | RCV000469217 | SCV001144493 | benign | not provided | 2018-09-18 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003380419 | SCV004098767 | benign | Rett syndrome | 2023-08-14 | criteria provided, single submitter | curation | This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria.Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0, this variant is classified as benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 2.0 (BA1). Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7). |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000469217 | SCV004220018 | benign | not provided | 2018-09-18 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000168695 | SCV000188258 | benign | not specified | 2013-12-05 | no assertion criteria provided | curation |