Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555700 | SCV000651506 | likely benign | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224333 | SCV003920001 | uncertain significance | Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome | 2022-10-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.1% (20/17588) (https://gnomad.broadinstitute.org/variant/3-128205667-C-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:472452). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Baylor Genetics | RCV003470766 | SCV004198637 | uncertain significance | Acute myeloid leukemia | 2023-07-31 | criteria provided, single submitter | clinical testing |