Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1353D
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BRCA1

NM_007294.4:p.E1353D

Associated Papers

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.

Benet-Pagès A et al.

Genetics in Medicine Open, 2025

40027238 (PubMed )
Supplement: mmc1.xlsx › Tabelle1
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