Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556260 | SCV000646224 | benign | Multiple endocrine neoplasia type 4 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001024106 | SCV001186065 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-12 | 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. |
Sema4, |
RCV001024106 | SCV002527684 | benign | Hereditary cancer-predisposing syndrome | 2021-07-01 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV000556260 | SCV004017038 | benign | Multiple endocrine neoplasia type 4 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962538 | SCV004783163 | likely benign | CDKN1B-related disorder | 2019-10-10 | 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). |