Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459010 | SCV000554434 | likely benign | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821308 | SCV002066542 | uncertain significance | not specified | 2021-01-25 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the GATA2 gene demonstrated a sequence change in intron 2, c.230-12_230-9del. This change does not appear to have been previously described in patients with GATA2-related disorders and has been described in the gnomAD database with a low population frequency of 0.02% (dbSNP rs780435066). This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the GATA2 gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined. |
Sema4, |
RCV002256275 | SCV002529427 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-03 | criteria provided, single submitter | curation |