Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000707549 | SCV000836650 | likely benign | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003398727 | SCV004120625 | uncertain significance | GATA2-related disorder | 2023-07-07 | criteria provided, single submitter | clinical testing | The GATA2 c.787G>A variant is predicted to result in the amino acid substitution p.Gly263Arg. To our knowledge, this variant has not been reported in the literature in association with disease. This variant has been reported in a study of cancer-susceptibility genes in a healthy, ancestrally diverse cohort (Table S1, Bodian et al. 2014. PubMed ID: 24728327) and is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-128204654-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Baylor Genetics | RCV004567046 | SCV005058909 | uncertain significance | Acute myeloid leukemia | 2023-11-29 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121150 | SCV000085318 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |