P669: Empowering clinicians to resolve VUS: Presenting VUS clarification outcomes

Familial segregation studies provide essential, yet often underutilized, information for reclassifying Variants of Uncertain Significance (VUS). The VUS Clarification Service (VCS) program was designed to enhance the utility of familial segregation data. This unique approach offered a structured, three-tiered approach to assess potentially significant VUS and deliver customized guidance in clinical reports. In Tier 1, parental or offspring testing is performed to determine de novo status and phase without requiring a formal application or a formal application.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103038
Primary Topic
Vascular Procedures and Complications
Type
article
Field-Weighted Citation Impact
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article

P669: Empowering clinicians to resolve VUS: Presenting VUS clarification outcomes

Mia Toivonen, Allison Sluyters, Julie Hathaway, Juha Koskenvuo et al.
Genetics in Medicine Open
Vascular Procedures and Complications
article

P669: Empowering clinicians to resolve VUS: Presenting VUS clarification outcomes

Mia Toivonen, Allison Sluyters, Julie Hathaway, Juha Koskenvuo, S. Sushama Bai, Laurel Fuqua, Kimberly Gall, Eija H. Seppälä, Michelle Paczosa, Jennifer Keller-Ramey
article en

Abstract

Familial segregation studies provide essential, yet often underutilized, information for reclassifying Variants of Uncertain Significance (VUS). The VUS Clarification Service (VCS) program was designed to enhance the utility of familial segregation data. This unique approach offered a structured, three-tiered approach to assess potentially significant VUS and deliver customized guidance in clinical reports. In Tier 1, parental or offspring testing is performed to determine de novo status and phase without requiring a formal application or a formal application.

Genetics in Medicine OpenVol. 3
Quest Diagnostics (United Kingdom) (GB), Blueprint Genetics (Finland) (FI), Quest Diagnostics (United States) (US)
Gender equality
Openalex Percentile: Top 93%
Vascular Procedures and Complications
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P669: Empowering clinicians to resolve VUS: Presenting VUS clarification outcomes — Mia Toivonen, Allison Sluyters, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS