Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768256 | SCV000898793 | uncertain significance | Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2 | 2018-01-18 | criteria provided, single submitter | clinical testing | KRAS NM_004985.4 exon 3 c.112-5C>T: This variant has not been reported in the literature but is present in 1/15268 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs376520586). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV002533940 | SCV001076955 | likely benign | RASopathy | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224447 | SCV003920138 | uncertain significance | Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer | 2021-11-23 | criteria provided, single submitter | clinical testing | KRAS NM_004985 exon 3 c.112-5C>T: This variant has not been reported in the literature but is present in 1/15268 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs376520586). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |