Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001699224 | SCV000236072 | likely benign | not provided | 2021-10-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000549746 | SCV000659188 | likely benign | Dilated cardiomyopathy 1KK | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000183603 | SCV000711511 | likely benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | p.Pro743Leu in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (23/10406) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs138583865). |
ARUP Laboratories, |
RCV001699224 | SCV002048167 | likely benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426885 | SCV002726306 | likely benign | Cardiovascular phenotype | 2018-12-14 | 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. |
Clinical Genetics, |
RCV001699224 | SCV001922540 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001699224 | SCV001958186 | likely benign | not provided | no assertion criteria provided | clinical testing |