Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genomics Laboratory, |
RCV001007711 | SCV001167383 | pathogenic | Neurofibromatosis, type 1 | 2020-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003320780 | SCV004025579 | uncertain significance | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | Identified in a child referred for genetic testing for NF1 with multiple cafe au lait macules and no other features of NF1 (Wimmer et al., 2020; Koczkowska et al., 2023); Splicing studies demonstrate that the variant results in partial/low-level skipping of the adjacent exon 9 (Wimmer et al., 2020; Koczkowska et al., 2023); In silico analysis supports a deleterious effect on splicing; Also known as IVS6-21 C>A; This variant is associated with the following publications: (PMID: 37186028, 32126153) |
Baylor Genetics | RCV003467579 | SCV004190750 | uncertain significance | Juvenile myelomonocytic leukemia | 2023-04-07 | criteria provided, single submitter | clinical testing |