Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037390 | SCV000061047 | likely benign | not specified | 2015-11-09 | criteria provided, single submitter | clinical testing | p.Gly172Ser in exon 6 of LAMA4: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (25/9762) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs147695488). |
Ambry Genetics | RCV000249046 | SCV000319892 | likely benign | Cardiovascular phenotype | 2018-07-10 | 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 |
RCV001699186 | SCV000518344 | likely benign | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24503780) |
Invitae | RCV000475120 | SCV000556722 | likely benign | Dilated cardiomyopathy 1JJ | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000475120 | SCV002047852 | likely benign | Dilated cardiomyopathy 1JJ | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000475120 | SCV002806546 | likely benign | Dilated cardiomyopathy 1JJ | 2021-07-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952430 | SCV004769086 | likely benign | LAMA4-related condition | 2024-01-01 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Clinical Genetics, |
RCV001699186 | SCV001924278 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001699186 | SCV001930858 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001699186 | SCV001958837 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001699186 | SCV001967957 | likely benign | not provided | no assertion criteria provided | clinical testing |