Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV001841765 | SCV000050752 | likely benign | Cardiac arrhythmia | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000589585 | SCV000166983 | likely benign | not provided | 2021-01-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31920912, 32164423, 24025405, 17242276, 27884173, 23631430, 23174487) |
Labcorp Genetics |
RCV001085479 | SCV000218893 | likely benign | Long QT syndrome | 2025-01-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589585 | SCV000697720 | likely benign | not provided | 2017-03-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620213 | SCV000735816 | likely benign | Cardiovascular phenotype | 2018-12-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Center for Advanced Laboratory Medicine, |
RCV000852980 | SCV000995729 | benign | Familial dilated cardiomyopathy and peripheral neuropathy | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001150178 | SCV001311191 | uncertain significance | Cardiac arrhythmia, ankyrin-B-related | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV005400699 | SCV001433359 | likely benign | not specified | 2025-04-08 | criteria provided, single submitter | clinical testing | BS1;BS2;BP4 |
Ce |
RCV000589585 | SCV003916911 | likely benign | not provided | 2025-04-01 | criteria provided, single submitter | clinical testing | ANK2: PM5, BP4, BS2 |
Cardiovascular Biomedical Research Unit, |
RCV001841765 | SCV000089864 | not provided | Cardiac arrhythmia | no assertion provided | literature only | This variant has been reported as associated with Cardiac arrhythmia in the following publications (PMID:17242276). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory. | |
Prevention |
RCV003974947 | SCV004791815 | likely benign | ANK2-related disorder | 2019-05-30 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |