Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037358 | SCV000061015 | likely benign | not specified | 2012-07-06 | criteria provided, single submitter | clinical testing | Val977Ile in exon 22 of LAMA4: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (12/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/;rs145648026). Val977Ile in exon 22 of LAMA4 (rs145 648026; allele frequency = 0.3%, 12/4406) ** |
Gene |
RCV001534592 | SCV000515979 | likely benign | not provided | 2020-03-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24503780) |
Invitae | RCV000865563 | SCV001006553 | likely benign | Dilated cardiomyopathy 1JJ | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001534592 | SCV001919780 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001534592 | SCV001930806 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001534592 | SCV001975265 | likely benign | not provided | no assertion criteria provided | clinical testing |