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What is BRCA Run 8 Variant Classification Summary about?
This document provides a summary of variant classifications and evidence from BRCA Run 8 Participation for 6 variants. Key classifications include: 1) Variant ATM c.2442C>A is classified as Class 1: Benign based on strong criteria of frequent observation in populations and computational predictions. 2) Variant BRCA1 c.5324T>G is classified as Class 5: Pathogenic supported by functional studies, computational predictions, and being in a dense missense hotspot. 3) Variant BRCA1 c.1106_1108del is classified
- Author
- bfajilan26
- Language
- EN