Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213537 | SCV000269201 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Ser542Ser in Exon 13 of LAMA4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence and has been identified in 0.6% (22/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs149459643). |
Gene |
RCV000213537 | SCV000518217 | benign | not specified | 2016-01-05 | 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. |
Ambry Genetics | RCV000618331 | SCV000736980 | likely benign | Cardiovascular phenotype | 2015-09-17 | 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, |
RCV000770219 | SCV000901649 | benign | Cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000862190 | SCV001002656 | benign | Dilated cardiomyopathy 1JJ | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955247 | SCV004776378 | benign | LAMA4-related condition | 2019-02-20 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Clinical Genetics, |
RCV000213537 | SCV001923370 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727635 | SCV001974329 | likely benign | not provided | no assertion criteria provided | clinical testing |