Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001752628 | SCV001997534 | uncertain significance | not provided | 2019-12-19 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico splice algorithms do not predict an effect on gene splicing; nucleotide is conserved in mammals |
Ambry Genetics | RCV002386529 | SCV002695634 | likely benign | Cardiovascular phenotype | 2021-05-06 | 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. |
Fulgent Genetics, |
RCV002477970 | SCV002780490 | uncertain significance | Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 | 2022-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003539405 | SCV004343882 | likely benign | RASopathy | 2023-03-23 | criteria provided, single submitter | clinical testing |