Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085742 | SCV000286245 | benign | Long QT syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586886 | SCV000697736 | benign | not provided | 2016-04-04 | criteria provided, single submitter | clinical testing | Variant summary: The vriant affects a non-conserved nucleotide and results in synonymous mutation. Mutation taster predicts a disease causing outcome for this change while 5/5 in silico tools via Alamut predict no impact on splicing. The variant was observed in the large and broad cohorts of the NHLBI-ES and ExAC projects at an allele frequency of 0.15% which greatly exceeds (~150 times) the maximal expected allele frequency of a disease causing ANK2 allele (0.001%), strongly supporting a benign nature for the variant. Based on the high allele frequency in the general population, the variant was classified as Benign. |
Ambry Genetics | RCV000620603 | SCV000737428 | likely benign | Cardiovascular phenotype | 2017-08-31 | 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. |
ARUP Laboratories, |
RCV000586886 | SCV000885008 | benign | not provided | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001145403 | SCV001306073 | likely benign | Cardiac arrhythmia, ankyrin-B-related | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000586886 | SCV001860794 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001145403 | SCV002525032 | benign | Cardiac arrhythmia, ankyrin-B-related | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000586886 | SCV004148727 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | ANK2: BP4, BP7, BS2 |
Clinical Genetics, |
RCV001699162 | SCV001921883 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001699162 | SCV001929127 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001699162 | SCV001956947 | benign | not specified | no assertion criteria provided | clinical testing |