Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000154747 | SCV000170112 | benign | not specified | 2014-03-19 | 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, |
RCV000154747 | SCV000204427 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Asn260Asn in exon 9 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.1% (5/6690) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Asn260Asn in exon 9 of LDB3 (allele frequency = 0.1%, 5/6690) ** |
Invitae | RCV001084072 | SCV000557558 | benign | Myofibrillar myopathy 4 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621208 | SCV000736046 | likely benign | Cardiovascular phenotype | 2017-09-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Ce |
RCV000476412 | SCV001150619 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | LDB3: BP4, BP7 |
ARUP Laboratories, |
RCV000154747 | SCV001157995 | benign | not specified | 2018-11-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498617 | SCV002804518 | likely benign | Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 | 2022-02-17 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000154747 | SCV001920637 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000476412 | SCV001932540 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000476412 | SCV001951566 | likely benign | not provided | no assertion criteria provided | clinical testing |