Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000123986 | SCV000167384 | benign | not specified | 2014-05-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588952 | SCV000695009 | uncertain significance | not provided | 2017-06-16 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.6937+13T>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 104948 control chromosomes. In addition, one clinical diagnostic laboratory/reputable database has classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a VUS - possibly benign variant until additional information becomes available. |
| Color Diagnostics, |
RCV000773093 | SCV000906540 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-14 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001089140 | SCV001129874 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-10 | criteria provided, single submitter | clinical testing |