Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037342 | SCV000060999 | benign | not specified | 2012-02-16 | criteria provided, single submitter | clinical testing | 196-12T>C in intron 2 of LAMA4: This variant is not expected to have clinical si gnificance because it has been identified in 2% (143/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs78871662). |
Gene |
RCV000037342 | SCV000170045 | benign | not specified | 2014-03-10 | 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. |
ARUP Laboratories, |
RCV000604102 | SCV001159624 | benign | Dilated cardiomyopathy 1JJ | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000604102 | SCV002379460 | benign | Dilated cardiomyopathy 1JJ | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037342 | SCV004029201 | benign | not specified | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000604102 | SCV000734460 | likely benign | Dilated cardiomyopathy 1JJ | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000037342 | SCV001921008 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000037342 | SCV001932761 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037342 | SCV001957847 | benign | not specified | no assertion criteria provided | clinical testing |