Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522878 | SCV000618471 | uncertain significance | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | This in-frame deletion of three nucleotides in BRIP1 is denoted c.1702_1704delAAT at the cDNA level and p.Asn568del (N568del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CAAA[delAAT]GGGT. This deletion occurs at an amino acid that is not conserved and is not located in a known functional domain. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRIP1 Asn568del to be a variant of uncertain significance. |
Counsyl | RCV000662473 | SCV000784968 | uncertain significance | Fanconi anemia, complementation group J; Neoplasm of ovary | 2017-02-23 | criteria provided, single submitter | clinical testing |