Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000156759 | SCV000170114 | benign | not specified | 2013-10-14 | 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. |
Laboratory for Molecular Medicine, |
RCV000156759 | SCV000206480 | likely benign | not specified | 2014-08-21 | criteria provided, single submitter | clinical testing | Tyr445Tyr in exon 12 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. |
Eurofins Ntd Llc |
RCV000156759 | SCV000334323 | benign | not specified | 2015-08-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000457257 | SCV000557561 | benign | Myofibrillar myopathy 4 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621803 | SCV000736616 | benign | Cardiovascular phenotype | 2016-07-13 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
ARUP Laboratories, |
RCV003736595 | SCV004564049 | benign | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing |