Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222050 | SCV000270331 | likely benign | not specified | 2015-10-01 | criteria provided, single submitter | clinical testing | p.Phe1266Phe in exon 28 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 12/66166 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs138232283). |
Gene |
RCV000866546 | SCV000715652 | likely benign | not provided | 2021-02-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619287 | SCV000736623 | likely benign | Cardiovascular phenotype | 2016-06-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Invitae | RCV001429524 | SCV001632239 | likely benign | Dilated cardiomyopathy 1JJ | 2023-10-13 | criteria provided, single submitter | clinical testing |