Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154733 | SCV000204413 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | 4644+15G>A in intron 33 of LAMA4: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 0.2% (8/3738) of African American chromosomes from a broa d population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS; rs377415750). 4644+15G>A in intron 33 of LAMA4 (rs377415750, allele frequ ency = 0.2%, 8/3738) ** |
Gene |
RCV000154733 | SCV000250508 | benign | not specified | 2015-02-12 | 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. |
Invitae | RCV002056058 | SCV002360387 | benign | Dilated cardiomyopathy 1JJ | 2023-12-20 | criteria provided, single submitter | clinical testing |