Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228721 | SCV000284541 | likely benign | Neurofibromatosis, type 2 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570766 | SCV000674138 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-23 | 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. |
Prevention |
RCV003955307 | SCV004768343 | likely benign | NF2-related condition | 2021-11-10 | 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). |