| - GRCh37:
- Chr13:32907165
- GRCh38:
- Chr13:32333028
| BRCA2 | N517I | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome | Uncertain significance (Aug 21, 2017) | criteria provided, single submitter | VCV000481186 |
| - GRCh37:
- Chr13:32907165
- GRCh38:
- Chr13:32333028
| BRCA2 | N517S | Hereditary cancer-predisposing syndrome, not specified, not provided, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2 | Conflicting interpretations of pathogenicity (Nov 23, 2021) | criteria provided, conflicting interpretations | VCV000037745 |