Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000131667 | SCV000186695 | uncertain significance | Hereditary cancer-predisposing syndrome | 2013-05-16 | criteria provided, single submitter | clinical testing | Co-segregation data for this variant is currently unavailable. This variant has been detected in conjunction with a pathogenic mutation in BRIP1 in one individual tested by our laboratory (this case). Allele frequency data in population-based cohorts is not currently available. This amino acid position is well conserved through mammals.This alteration is predicted to be possibly damaging with a score of 0.883 (sensitivity: 0.71; specificity: 0.89)This alteration is predicted to be deleterious with a score of 0.000 (conservation: 1.49) |