Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825715 | SCV000967164 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Leu643Leu in Exon 11 of CBL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 1/3738 African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs139939244). |
Invitae | RCV001505302 | SCV001710194 | likely benign | RASopathy | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497197 | SCV002799074 | likely benign | Juvenile myelomonocytic leukemia; CBL-related disorder | 2021-07-27 | criteria provided, single submitter | clinical testing |