Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV003224390 | SCV003920437 | uncertain significance | Chronic myelogenous leukemia, BCR-ABL1 positive; Acute lymphoid leukemia | 2021-03-30 | criteria provided, single submitter | clinical testing | BCR NM_004327.3 exon 10 p.Ala786Thr (c.2356G>A): This variant has not been reported in the literature but is present in 6/34372 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs564064573). 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. |