Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487527 | SCV000575105 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001856886 | SCV002184133 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-11-03 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with breast cancer (PMID: 14973102). ClinVar contains an entry for this variant (Variation ID: 425132). This variant is not present in population databases (ExAC no frequency). This variant, c.252_254del, results in the deletion of 1 amino acid of the BRCA1 protein (p.Glu85del), but otherwise preserves the integrity of the reading frame. |