Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000157672 | SCV000490967 | pathogenic | not provided | 2015-03-30 | criteria provided, single submitter | clinical testing | The G13D variant has been reported as a de novo germline variant in association with autoimmune lymphoproliferative syndrome (ALPS) (Oliveira et al., 2007). In vitro functional studies demonstrated that the presence of the G13D variant resulted in BCL-2-interacting mediator of cell death down-regulation and defective intrinsic mitochondrial apoptosis prominently in lymphocytes, leading to features of ALPS and hematopoietic malignancies (Oliveira et al., 2007). The G13D variant has also been reported as a germline variant in association with dysmorphic features and Juvenile Myelomonocytic Leukemia (JMML) (De Filippi et al., 2009). The G13D variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. |
Genomic Diagnostic Laboratory, |
RCV001293767 | SCV001480520 | likely pathogenic | Acute megakaryoblastic leukemia in down syndrome | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Genetics, |
RCV000144962 | SCV003837579 | likely pathogenic | Autoimmune lymphoproliferative syndrome type 4 | 2023-01-03 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000014915 | SCV000035171 | pathogenic | Juvenile myelomonocytic leukemia | 2011-03-10 | no assertion criteria provided | literature only | |
OMIM | RCV000022690 | SCV000043979 | pathogenic | Noonan syndrome 6 | 2011-03-10 | no assertion criteria provided | literature only | |
OMIM | RCV000144962 | SCV000191989 | pathogenic | Autoimmune lymphoproliferative syndrome type 4 | 2011-03-10 | no assertion criteria provided | literature only | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000157672 | SCV000207643 | pathogenic | not provided | 2015-01-15 | no assertion criteria provided | clinical testing | |
Database of Curated Mutations |
RCV000431020 | SCV000503680 | pathogenic | Melanoma | 2016-03-10 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000440357 | SCV000503681 | likely pathogenic | Acute myeloid leukemia | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000422699 | SCV000503682 | likely pathogenic | Malignant melanoma of skin | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000430350 | SCV000503683 | likely pathogenic | Gastric adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000440593 | SCV000503684 | likely pathogenic | Neoplasm of the large intestine | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000421906 | SCV000503685 | likely pathogenic | Medulloblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000433031 | SCV000503686 | likely pathogenic | Multiple myeloma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000442419 | SCV000503687 | likely pathogenic | Non-Hodgkin lymphoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000421229 | SCV000503688 | likely pathogenic | Transitional cell carcinoma of the bladder | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000431528 | SCV000503689 | likely pathogenic | Myelodysplastic syndrome | 2016-05-31 | no assertion criteria provided | literature only |