Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037374 | SCV000061031 | benign | not specified | 2012-04-24 | criteria provided, single submitter | clinical testing | 4266+15C>T in Intron 31 of LAMA4: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 3.7% (138/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS/; rs116361180). |
Gene |
RCV000037374 | SCV000170037 | benign | not specified | 2014-03-25 | 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. |
Genome Diagnostics Laboratory, |
RCV000610133 | SCV000743162 | benign | Dilated cardiomyopathy 1JJ | 2014-10-09 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000610133 | SCV001159917 | benign | Dilated cardiomyopathy 1JJ | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000610133 | SCV002405796 | benign | Dilated cardiomyopathy 1JJ | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000610133 | SCV002800049 | benign | Dilated cardiomyopathy 1JJ | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037374 | SCV004038038 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000610133 | SCV000734429 | benign | Dilated cardiomyopathy 1JJ | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000037374 | SCV001922656 | benign | not specified | no assertion criteria provided | clinical testing |