Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001088575 | SCV000546137 | likely benign | Hypertrophic cardiomyopathy 14 | 2024-12-17 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000658226 | SCV000779997 | uncertain significance | not provided | 2024-07-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
| Baylor Genetics | RCV001334050 | SCV001526787 | uncertain significance | Atrial septal defect 3 | 2018-03-27 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Ambry Genetics | RCV002323703 | SCV002610291 | likely benign | Cardiovascular phenotype | 2025-01-27 | 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. |
| Johns Hopkins Genomics, |
RCV001334050 | SCV003839118 | uncertain significance | Atrial septal defect 3 | 2022-12-07 | criteria provided, single submitter | clinical testing | This MYH6 variant (rs377716628) has been identified in a large population dataset and the minor allele frequency is neither low enough to consider the variant rare (<0.1%) nor high enough to consider it a population polymorphism (>1%) within the African/African American subpopulation (gnomAD: 32/24972 alleles; 0.13%, no homozygotes). This patient's ethnicity is reported to be Brazilian. This variant has been previously reported to ClinVar. Two bioinformatic tools queried predict that this substitution would be damaging, and the glutamine residue at this position is strongly conserved across the vertebrate species assessed. Bioinformatic analysis predicts that this missense variant would not affect normal exon 24 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.3230A>T (p.Gln1077Leu) to be uncertain at this time. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005407117 | SCV006072332 | likely benign | not specified | 2025-03-07 | criteria provided, single submitter | clinical testing |