Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001094783 | SCV000447152 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV000338426 | SCV000557235 | benign | Long QT syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000505943 | SCV000602496 | benign | not specified | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000505943 | SCV000918423 | benign | not specified | 2018-02-05 | criteria provided, single submitter | clinical testing | Variant summary: ANK2 c.1881+8C>G alters a non-conserved intronic nucleotide in intron 17 of the ANK2 gene. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be functionally assessed. The variant allele was found at a frequency of 0.0018 in 277002 control chromosomes in the gnomAD database, including 4 homozygotes. The observed variant frequency is approximately 183-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in ANK2 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. To our knowledge, the variant, c.1881+8C>G, has not been reported in affected individuals via publications. Multiple clinical diagnostic laboratories have ClinVar submissions (after 2014) with classifications of "likely benign/benign." Based on the evidence outlined above, the variant was classified as benign. |
Gene |
RCV001706559 | SCV001831633 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001094783 | SCV002525002 | benign | Cardiac arrhythmia, ankyrin-B-related | 2021-12-05 | criteria provided, single submitter | clinical testing |