Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037399 | SCV000061056 | benign | not specified | 2012-07-06 | criteria provided, single submitter | clinical testing | Ser289Ser in Exon 08 of LAMA4: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.3% (48/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs17073495). |
Gene |
RCV000037399 | SCV000250519 | benign | not specified | 2014-09-04 | 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 | RCV000231375 | SCV000287338 | benign | Dilated cardiomyopathy 1JJ | 2024-01-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000231375 | SCV001159565 | benign | Dilated cardiomyopathy 1JJ | 2020-01-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531017 | SCV001745951 | likely benign | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037399 | SCV003929142 | benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000231375 | SCV000734455 | likely benign | Dilated cardiomyopathy 1JJ | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000037399 | SCV001921046 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000037399 | SCV001973516 | benign | not specified | no assertion criteria provided | clinical testing |