Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439630 | SCV000512315 | likely benign | not specified | 2016-12-19 | 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. |
Invitae | RCV000496840 | SCV000636012 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580343 | SCV000683259 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588153 | SCV000699208 | uncertain significance | not provided | 2017-05-30 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA1 c.5152+15A>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 was found in the ExAC dataset in 1/118024 control chromosomes at a frequency of 0.0000085, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). Additionaly, in gnomAD, the variant was identified at a low frequency as well (0.000012; 3/245902 chrs tested). In addition, one clinical diagnostic laboratory classified this variant as "Likely Benign". Taken together, this variant is classified as VUS-Possibly Benign. |
ARUP Laboratories, |
RCV000439630 | SCV001156830 | likely benign | not specified | 2019-02-11 | criteria provided, single submitter | clinical testing | |
Cancer Genetics and Genomics Laboratory, |
RCV000496840 | SCV000586907 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2016-04-14 | no assertion criteria provided | clinical testing |