Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495579 | SCV000578119 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Invitae | RCV001087494 | SCV000253498 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000855614 | SCV000698952 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000586273 | SCV000885076 | likely benign | not provided | 2018-03-28 | criteria provided, single submitter | clinical testing | The BRCA1 c.243A>G; p.Gln81Gln variant (rs863224418) has been described once to co-occur with a pathogenic BRCA2 variant (see link to UMD database). It has been reported as likely benign in ClinVar (Variation ID: 215871) and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This is a synonymous change, the nucleotide is weakly conserved, and computational algorithms do not predict that this variant impacts splicing (Alamut v.2.11). Based on available information, this variant is considered likely benign. References: Link to UMD database: http://www.umd.be/BRCA2/4DACTION/Web_D_splice/5715 |
Ambry Genetics | RCV001015540 | SCV001176385 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Color Diagnostics, |
RCV001015540 | SCV001339965 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000855614 | SCV002067594 | likely benign | not specified | 2018-12-21 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV000495579 | SCV001243760 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |