Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163407 | SCV000213950 | likely benign | Hereditary cancer-predisposing syndrome | 2014-11-20 | 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. |
Invitae | RCV001081502 | SCV000259679 | likely benign | Familial cancer of breast; Fanconi anemia complementation group J | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410445 | SCV000489965 | likely benign | Fanconi anemia complementation group J | 2016-08-29 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411657 | SCV000489966 | likely benign | Neoplasm of ovary | 2016-08-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000758994 | SCV000512409 | likely benign | not provided | 2019-09-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163407 | SCV000684239 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-13 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758994 | SCV000887994 | benign | not provided | 2018-08-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000435452 | SCV001821369 | benign | not specified | 2021-08-23 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163407 | SCV002533664 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-18 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV003315995 | SCV004019367 | benign | Familial cancer of breast | 2023-02-28 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Center for Genomic Medicine, |
RCV000435452 | SCV004026894 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000758994 | SCV004042012 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | BRIP1: BP4 |
ARUP Laboratories, |
RCV000758994 | SCV004563520 | benign | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927537 | SCV004741456 | likely benign | BRIP1-related condition | 2019-09-13 | 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). |
King Laboratory, |
RCV000435452 | SCV001251330 | benign | not specified | 2019-09-01 | no assertion criteria provided | research |