Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124823 | SCV000168262 | benign | not specified | 2014-03-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000124823 | SCV000270167 | likely benign | not specified | 2015-10-01 | criteria provided, single submitter | clinical testing | c.2986-6T>A in intron 21 of DSP: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (42/10192) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs144748036). |
Eurofins Ntd Llc |
RCV000124823 | SCV000338588 | likely benign | not specified | 2016-01-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000468490 | SCV000555789 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777809 | SCV000913804 | likely benign | Cardiomyopathy | 2018-05-11 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000777809 | SCV004240519 | benign | Cardiomyopathy | 2023-01-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945120 | SCV004766420 | likely benign | DSP-related condition | 2023-06-19 | criteria provided, single submitter | 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). |
Clinical Genetics, |
RCV000124823 | SCV001918569 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001725984 | SCV001968069 | likely benign | not provided | no assertion criteria provided | clinical testing |