Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150925 | SCV000198561 | likely benign | not specified | 2017-11-06 | criteria provided, single submitter | clinical testing | p.Ala346Thr in exon 10 of LDB3: This variant is not expected to have clinical si gnificance due to frequency in the general population and a lack of conservation across species, including mammals. Of note, 4 non-human primates have a threoni ne (Thr) at this position. In addition, computational prediction tools do not su ggest a high likelihood of impact to the protein. It has also been identified in 0.13% (31/23778) of African chromosomes by the Genome Aggregation Database (gno mAD, http://gnomad.broadinstitute.org; dbSNP rs201968775). ACMG/AMP Criteria app lied: BS1, BP4 (Richards 2015). |
Gene |
RCV000732675 | SCV000235983 | likely benign | not provided | 2022-10-25 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV000619838 | SCV000736758 | likely benign | Cardiovascular phenotype | 2021-03-18 | 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. |
Eurofins Ntd Llc |
RCV000732675 | SCV000860653 | uncertain significance | not provided | 2018-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001411199 | SCV001613256 | likely benign | Myofibrillar myopathy 4 | 2023-12-25 | criteria provided, single submitter | clinical testing |