single nucleotide variant | NM_058216.3(RAD51C):c.904+1G>T | RAD51C | Likely pathogenic | 17 | 56798174 | 56798174 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA400359845 |
Deletion | NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) | RAD51C | Pathogenic | 17 | 56798156 | 56798165 | TTGCTTGTTCC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658626 |
Deletion | NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) | RAD51C | Pathogenic | 17 | 56798118 | 56798121 | CCAAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615476 |
Duplication | NM_058216.3(RAD51C):c.851_854dup (p.Met286fs) | RAD51C | Pathogenic | 17 | 56798117 | 56798118 | C | CCAAT | criteria provided, single submitter | ClinGen:CA658658625 |
Deletion | NC_000017.11:g.(?_58720746)_(58734342_?)del | RAD51C | Pathogenic | 17 | 56798107 | 56811703 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_058216.3(RAD51C):c.838-2A>G | RAD51C | Likely pathogenic | 17 | 56798105 | 56798105 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA400359301 |
Deletion | NC_000017.11:g.(?_58720740)_(58720818_?)del | RAD51C | Pathogenic | 17 | 56798101 | 56798179 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_56798101)_(56798179_?)dup | RAD51C | Likely pathogenic | 17 | 56798101 | 56798179 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_58720740)_(58724106_?)del | RAD51C | Pathogenic | 17 | 56798101 | 56801467 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_58720736)_(58734232_?)del | RAD51C | Pathogenic | 17 | 56798097 | 56811593 | na | na | criteria provided, single submitter | - |