Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660001 | SCV000781931 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660001 | SCV003442613 | pathogenic | Neurofibromatosis, type 1 | 2023-08-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 547603). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 23656349, 31370276). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln616*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). |
Baylor Genetics | RCV003459560 | SCV004198991 | pathogenic | Juvenile myelomonocytic leukemia | 2022-03-27 | criteria provided, single submitter | clinical testing |