Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216999 | SCV000270335 | likely benign | not specified | 2015-02-12 | criteria provided, single submitter | clinical testing | p.Leu1661Leu in exon 36 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. |
Invitae | RCV000868651 | SCV001010009 | likely benign | Dilated cardiomyopathy 1JJ | 2023-03-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165527 | SCV003910275 | likely benign | Cardiovascular phenotype | 2022-11-27 | 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. |