Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002348857 | SCV002649710 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-10 | criteria provided, single submitter | clinical testing | The p.Q192* pathogenic mutation (also known as c.574C>T), located in coding exon 6 of the RAD51D gene, results from a C to T substitution at nucleotide position 574. This changes the amino acid from a glutamine to a stop codon within coding exon 6. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
CZECANCA consortium | RCV001271050 | SCV001451869 | pathogenic | Breast and/or ovarian cancer | 2019-06-11 | no assertion criteria provided | clinical testing | |
China- |
RCV002463462 | SCV002754417 | pathogenic | Ovarian neoplasm | no assertion criteria provided | clinical testing |