P519: VEPerform: A web resource for evaluating the performance of variant effect predictors

Gelijkaardige items

• P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic
  door: Mary Colasanto, et al.
  Gepubliceerd in: (2024-01-01)
• Reclassification of variants of uncertain significance by race, ethnicity, and ancestry for patients at risk for breast cancer
  door: Versha Pleasant, et al.
  Gepubliceerd in: (2025-02-01)
• Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data
  door: Jane Hübertz Frederiksen, et al.
  Gepubliceerd in: (2024-11-01)
• Certainty in uncertainty: Determining the rate and reasons for reclassification of variants of uncertain significance in haematological malignancies
  door: Anoop K. Enjeti, et al.
  Gepubliceerd in: (2024-10-01)
• The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients
  door: Assaf N, et al.
  Gepubliceerd in: (2025-10-01)