Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004018401 | SCV004848940 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-04-03 | criteria provided, single submitter | clinical testing | The c.2098-18T>G intronic alteration consists of a T to G substitution 18 nucleotides before coding exon 14 in the BRIP1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |