Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208250 | SCV000263872 | uncertain significance | Ventricular fibrillation | 2015-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000465636 | SCV000543265 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-08-25 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852571 | SCV000995272 | uncertain significance | Cardiomyopathy | 2018-06-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000852571 | SCV001734468 | uncertain significance | Cardiomyopathy | 2020-09-16 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with glutamine at codon 1045 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 12/282294 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002485358 | SCV002782780 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437009 | SCV004163049 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing |