Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000171029 | SCV000223593 | benign | not specified | 2016-11-09 | 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. |
Invitae | RCV000990193 | SCV000291893 | likely benign | Brugada syndrome 5 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313016 | SCV000847791 | likely benign | Cardiovascular phenotype | 2018-07-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Institute for Genomic Medicine |
RCV000171029 | SCV000864302 | likely benign | not specified | 2017-11-06 | criteria provided, single submitter | clinical testing | BP4, BP6; This alteration is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory). |
Mendelics | RCV000990193 | SCV001141046 | benign | Brugada syndrome 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000226408 | SCV001151769 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SCN1B: BP4 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000171029 | SCV002104128 | benign | not specified | 2022-02-21 | criteria provided, single submitter | clinical testing | Variant summary: SCN1B c.769G>A (p.Gly257Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0014 in 154932 control chromosomes. The observed variant frequency is approximately 143 fold of the estimated maximal expected allele frequency for a pathogenic variant in SCN1B causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. c.769G>A has been reported in the literature in individuals affected with Arrhythmia. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Fulgent Genetics, |
RCV002498856 | SCV002804894 | likely benign | Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 | 2022-05-05 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000226408 | SCV001925141 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000226408 | SCV001928018 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000226408 | SCV001952118 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000226408 | SCV001974244 | likely benign | not provided | no assertion criteria provided | clinical testing |