Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039057 | SCV000062735 | benign | not specified | 2015-04-01 | criteria provided, single submitter | clinical testing | p.Thr186Thr in exon 4 of GATAD1: This variant is not expected to have clinical s ignificance because it has been identified in 2.6% (438/16512) of South Asian ch romosomes, including 16 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs141932124). |
Eurofins Ntd Llc |
RCV000039057 | SCV000230392 | benign | not specified | 2015-02-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000243656 | SCV000319642 | likely benign | Cardiovascular phenotype | 2015-06-10 | 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. |
Gene |
RCV001530053 | SCV000513117 | benign | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000458232 | SCV000562699 | benign | Dilated cardiomyopathy 2B | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001530053 | SCV001744595 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000039057 | SCV001966026 | benign | not specified | no assertion criteria provided | clinical testing |