| - GRCh37:
- Chr13:32907165
- GRCh38:
- Chr13:32333028
| BRCA2 | N517I | Hereditary breast and ovarian cancer syndrome, Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 19, 2019) | criteria provided, multiple submitters, no conflicts | VCV000481186 |
| - GRCh37:
- Chr13:32907165
- GRCh38:
- Chr13:32333028
| BRCA2 | N517S | Hereditary breast and ovarian cancer syndrome, Breast-ovarian cancer, familial 2, Hereditary cancer-predisposing syndrome,
not provided | Conflicting interpretations of pathogenicity
(Nov 30, 2019) | criteria provided, conflicting interpretations | VCV000037745 |