Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000868264 | SCV001009573 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759652 | SCV001985296 | uncertain significance | not provided | 2021-07-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#700184; Landrum et al., 2016) |
Ce |
RCV001759652 | SCV002496587 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Ambry Genetics | RCV003169149 | SCV003860952 | likely benign | Cardiovascular phenotype | 2023-02-13 | 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. |