Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214885 | SCV000270329 | likely benign | not specified | 2015-04-01 | criteria provided, single submitter | clinical testing | p.Thr1118Thr in exon 25 of LAMA4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (22/16508) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs143728627). |
Invitae | RCV001520873 | SCV001730086 | benign | Dilated cardiomyopathy 1JJ | 2023-02-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321832 | SCV002607159 | likely benign | Cardiovascular phenotype | 2021-11-02 | 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. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723794 | SCV001958934 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001723794 | SCV001976044 | likely benign | not provided | no assertion criteria provided | clinical testing |