Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473116 | SCV000549346 | uncertain significance | Hereditary breast and ovarian cancer syndrome | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000482750 | SCV000571757 | uncertain significance | not provided | 2016-09-23 | criteria provided, single submitter | clinical testing | This variant is denoted BRCA1 c.548-3T>C or IVS7-3T>C and consists of a T>C nucleotide substitution at the -3 position of intron 7 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 667-3T>C. In silico models are inconclusive with respect to splicing, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 c.548-3T>C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is not conserved across species. Based on currently available evidence, it is unclear whether BRCA1 c.548-3T>C is pathogenic or benign. We consider it to be a variant of uncertain significance. |
Counsyl | RCV000031258 | SCV000786141 | uncertain significance | Breast-ovarian cancer, familial 1 | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Color | RCV000771276 | SCV000903423 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-14 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031258 | SCV000053862 | uncertain significance | Breast-ovarian cancer, familial 1 | 2010-05-24 | no assertion criteria provided | clinical testing |