Fernandosr85/

adaption-rasopathy-vus-tier1-reports

This dataset is a remastered version prepared using Adaption's Adaptive Data platform.

This dataset contains structured clinical reports for Tier 1 prioritized variants of uncertain significance (VUS) within RASopathy-associated genes like PTPN11, SOS1, and RAF1. Each entry details computational evidence metrics, including investigation scores and CADD PHRED values, alongside ClinGen gene-disease validity classifications. The reports… See the full description on the dataset page: https://huggingface.co/datasets/Fernandosr85/adaption-rasopathy-vus-tier1-reports.