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...

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Detalles Bibliográficos
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:
Variant Discrepancy Resolution
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

Internet

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

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