Deletion | NC_000017.11:g.(?_43047623)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41199640 | 41277500 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_23603449)_(23614101_?)del | PALB2 | Pathogenic | 16 | 23614770 | 23625422 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_43074311)_(43115799_?)del | BRCA1 | Pathogenic | 17 | 41226328 | 41267816 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000059.4(BRCA2):c.6841+1G>A | BRCA2 | Likely pathogenic | 13 | 32915334 | 32915334 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000017.11:g.(?_43104102)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41256119 | 41277500 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000059.4(BRCA2):c.7008-1G>C | BRCA2 | Pathogenic | 13 | 32928997 | 32928997 | G | C | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_23634852)_(23641167_?)del | PALB2 | Pathogenic | 16 | 23646173 | 23652488 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_007294.4(BRCA1):c.5074+2T>A | BRCA1 | Pathogenic | 17 | 41219623 | 41219623 | A | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000017.11:g.(?_43067588)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41219605 | 41277500 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_41251772)_(41251917_?)dup | BRCA1 | Likely pathogenic | 17 | 41251772 | 41251917 | na | na | criteria provided, single submitter | - |