Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001701784 | SCV000236120 | likely benign | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000183651 | SCV000270616 | likely benign | not specified | 2015-06-09 | criteria provided, single submitter | clinical testing | p.Ile171Thr in exon 7 of NEXN: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (76/8584) of East Asian chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs372065024). |
Invitae | RCV000542710 | SCV000648484 | benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619570 | SCV000736019 | likely benign | Cardiovascular phenotype | 2018-07-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000768801 | SCV000900173 | uncertain significance | Cardiomyopathy | 2016-11-21 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000183651 | SCV001925727 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001701784 | SCV001928160 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701784 | SCV001973525 | likely benign | not provided | no assertion criteria provided | clinical testing |