Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092508 | SCV001249049 | pathogenic | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001873457 | SCV002139552 | pathogenic | Neurofibromatosis, type 1 | 2022-10-19 | 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: 872183). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10712197). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1491*) 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). |
Genome- |
RCV001873457 | SCV002560061 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001092508 | SCV001977769 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001092508 | SCV001980223 | pathogenic | not provided | no assertion criteria provided | clinical testing |