Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724433 | SCV000231661 | uncertain significance | not provided | 2014-11-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179415 | SCV000524386 | likely benign | not specified | 2016-02-09 | 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. |
Labcorp Genetics |
RCV001088510 | SCV000641441 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 3 | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326977 | SCV002630695 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-02 | 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. |
Prevention |
RCV003907627 | SCV004719652 | likely benign | SDHC-related disorder | 2020-06-05 | 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). |
All of Us Research Program, |
RCV003996582 | SCV004815703 | likely benign | Hereditary pheochromocytoma-paraganglioma | 2023-08-15 | criteria provided, single submitter | clinical testing |