Cargando…
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing
The ClinVar database is a useful tool for patients and physicians to view variant interpretations submitted by clinical and nonclinical labs. However, variants of uncertain significance (VUS) in ClinVar can pose a significant burden on patients. If possible, it is important to resolve discrepancies...
Autores principales: | Grant, Andrew R., Hemphill, Sarah E., Vincent, Lisa M., Rehm, Heidi L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169827/ https://www.ncbi.nlm.nih.gov/pubmed/29945942 http://dx.doi.org/10.1101/mcs.a002675 |
Ejemplares similares
-
Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features
por: Buehne, Kristen L., et al.
Publicado: (2022) -
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data
por: Hernandez, Felicia, et al.
Publicado: (2022) -
Difficulty in detecting discrepancies in a clinical trial report: 260-reader evaluation
por: Cole, Graham D, et al.
Publicado: (2015) -
Draft resolution
Publicado: (1991) -
Resolution on the Contribution of Greece
Publicado: (1994)