Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000029683 | SCV001332696 | uncertain significance | Cardiomyopathy | 2017-11-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000029683 | SCV001351139 | uncertain significance | Cardiomyopathy | 2022-08-22 | criteria provided, single submitter | clinical testing | This missense variant replaces alanine with glycine at codon 2655 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 17/282310 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. |
Baylor Genetics | RCV001332449 | SCV001524777 | uncertain significance | Arrhythmogenic right ventricular dysplasia 8 | 2019-06-14 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001506216 | SCV001711135 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-09-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000983907 | SCV001993933 | uncertain significance | not provided | 2019-07-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 36024; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029683 | SCV000052335 | likely pathogenic | Cardiomyopathy | 2011-08-18 | flagged submission | curation | Converted during submission to Likely pathogenic. |