Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229591 | SCV000288311 | benign | Neuroblastoma, susceptibility to, 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000421862 | SCV000526462 | likely benign | not specified | 2018-01-08 | 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. |
Ambry Genetics | RCV001012864 | SCV001173375 | benign | Hereditary cancer-predisposing syndrome | 2018-09-24 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Genetic Services Laboratory, |
RCV000421862 | SCV002070892 | benign | not specified | 2021-07-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000421862 | SCV002766256 | benign | not specified | 2022-11-19 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000229591 | SCV004016332 | benign | Neuroblastoma, susceptibility to, 3 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003919960 | SCV004735835 | benign | ALK-related condition | 2019-03-08 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |