Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150907 | SCV000198512 | benign | not specified | 2011-11-10 | criteria provided, single submitter | clinical testing | Leu113Leu in Exon 02 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 1.4% (99/6950) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs147118520). |
Gene |
RCV000150907 | SCV000516556 | benign | not specified | 2015-05-09 | 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, |
RCV000611290 | SCV001159576 | benign | Dilated cardiomyopathy 1JJ | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000611290 | SCV000734461 | likely benign | Dilated cardiomyopathy 1JJ | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000150907 | SCV001922966 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000150907 | SCV001975592 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003917472 | SCV004731818 | benign | LAMA4-related disorder | 2019-05-30 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |