Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164395 | SCV000215031 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV000206600 | SCV000259345 | likely benign | Familial cancer of breast | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Cancer Genetics Laboratory, |
RCV000206600 | SCV000268051 | likely benign | Familial cancer of breast | 2015-06-01 | criteria provided, single submitter | case-control | |
Counsyl | RCV000206600 | SCV000488050 | likely benign | Familial cancer of breast | 2015-12-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000435545 | SCV000517275 | likely benign | not specified | 2016-11-22 | 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. |
Color Diagnostics, |
RCV000164395 | SCV000690850 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000435545 | SCV000919936 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000206600 | SCV004019151 | benign | Familial cancer of breast | 2023-03-30 | 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. |
Prevention |
RCV004535097 | SCV004715742 | likely benign | PALB2-related disorder | 2024-01-12 | 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). |
True Health Diagnostics | RCV000164395 | SCV000886697 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-09 | no assertion criteria provided | clinical testing |