Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000767116 | SCV000250534 | likely benign | not provided | 2019-05-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000225909 | SCV000287328 | likely benign | Dilated cardiomyopathy 1JJ | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000246907 | SCV000320301 | benign | Cardiovascular phenotype | 2019-03-26 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Laboratory for Molecular Medicine, |
RCV000197877 | SCV000710910 | benign | not specified | 2018-06-06 | criteria provided, single submitter | clinical testing | p.Leu1011Phe in exon 23 of LAMA4: This variant is not expected to have clinical significance because it has been identified in 0.24% (61/25790) of Finnish chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs183262122). ACMG/AMP Criteria applied: BA1. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769198 | SCV000900574 | uncertain significance | Cardiomyopathy | 2017-03-17 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000769198 | SCV000995757 | likely benign | Cardiomyopathy | 2018-03-22 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000225909 | SCV000734437 | likely benign | Dilated cardiomyopathy 1JJ | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000767116 | SCV001971405 | likely benign | not provided | no assertion criteria provided | clinical testing |