Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156743 | SCV000206464 | likely benign | not specified | 2015-03-12 | criteria provided, single submitter | clinical testing | p.Cys697Cys in exon 15 of LDB3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (22/16038) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs571356142). |
Gene |
RCV001699046 | SCV000714082 | likely benign | not provided | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001523559 | SCV001733281 | benign | Myofibrillar myopathy 4 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000156743 | SCV002500517 | benign | not specified | 2022-03-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415678 | SCV002730251 | likely benign | Cardiovascular phenotype | 2021-03-30 | 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. |
Clinical Genetics, |
RCV001699046 | SCV001917982 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001699046 | SCV001927789 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001699046 | SCV001975977 | likely benign | not provided | no assertion criteria provided | clinical testing |