Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250011 | SCV000316746 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000470856 | SCV000563485 | benign | Neurofibromatosis, type 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000250011 | SCV000716140 | likely benign | not specified | 2017-02-20 | 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 | RCV001022862 | SCV001184645 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-22 | 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. |
Genome- |
RCV000470856 | SCV002044923 | benign | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000250011 | SCV002067602 | likely benign | not specified | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001022862 | SCV002528197 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-29 | criteria provided, single submitter | curation | |
Ce |
RCV002292501 | SCV002585921 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | NF2: BP4, BP7 |
Color Diagnostics, |
RCV000470856 | SCV004357032 | likely benign | Neurofibromatosis, type 2 | 2022-11-06 | criteria provided, single submitter | clinical testing |