Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502449 | SCV000593880 | benign | not specified | 2016-06-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314864 | SCV000848499 | likely benign | Inborn genetic diseases | 2016-12-16 | 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. |
Labcorp Genetics |
RCV000957922 | SCV001104744 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000957922 | SCV004140256 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | CC2D1A: BP4, BP7 |
Breakthrough Genomics, |
RCV000957922 | SCV005209563 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003960155 | SCV004774779 | likely benign | CC2D1A-related disorder | 2023-12-21 | no assertion criteria provided | 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). |