Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037344 | SCV000061001 | likely benign | not specified | 2015-06-25 | criteria provided, single submitter | clinical testing | c.196-9C>T in intron 2 of LAMA4: This variant is not expected to have clinical s ignificance because a C>T change at this position does not diverge from the spli ce consensus sequence and is therefore unlikely to impact splicing. In addition, it has been identified in 0.5% (49/10244) of African chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org;.dbSNP rs144850734). |
Gene |
RCV000037344 | SCV000170046 | benign | not specified | 2014-03-05 | 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 | RCV000228374 | SCV000287326 | benign | Dilated cardiomyopathy 1JJ | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000228374 | SCV002805199 | likely benign | Dilated cardiomyopathy 1JJ | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037344 | SCV004029194 | benign | not specified | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000037344 | SCV001922595 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727527 | SCV001972812 | likely benign | not provided | no assertion criteria provided | clinical testing |