Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000475429 | SCV000560739 | likely benign | Gastrointestinal stromal tumor | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431366 | SCV002730301 | likely benign | Hereditary cancer-predisposing syndrome | 2020-02-10 | 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. |
KCCC/NGS Laboratory, |
RCV000475429 | SCV004015796 | likely benign | Gastrointestinal stromal tumor | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437217 | SCV004150659 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | KIT: BP4, BP7 |
Prevention |
RCV003960092 | SCV004783583 | likely benign | KIT-related disorder | 2022-07-14 | 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). |
Breakthrough Genomics, |
RCV003437217 | SCV005257375 | likely benign | not provided | criteria provided, single submitter | not provided |