Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000503454 | SCV000602712 | benign | not specified | 2016-12-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000581644 | SCV000688309 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000868220 | SCV001009523 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000581644 | SCV002538064 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-24 | criteria provided, single submitter | curation | |
Prevention |
RCV003964964 | SCV004785334 | likely benign | BRCA1-related condition | 2019-04-08 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Breast Cancer Information Core |
RCV000111494 | SCV000143936 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | clinical testing | ||
Department of Pathology and Laboratory Medicine, |
RCV001353800 | SCV000591227 | benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The BRCA1, c.-19-10T>C variant was identified in dbSNP (ID: rs201866997) “With untested allele”, with a minor allele frequency of 0.0002 (1000 Genomes Project), LOVD, the ClinVar database (classified as a benign variant by the GeneDx), GeneInsight through the Canadian Open Genetics Repository (http://opengenetics.ca/) (1X, classified as “IARC class 3” by a clinical laboratory) and the BIC database (15X with unknown clinical importance). Fetzer (1999) found no evidence that c.-19-10T>C (IVS1-10TC) abnormally disrupted mRNA splicing or caused the absence of BRCA1 mRNA and classified it a benign polymorphism. In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign. |