Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544268 | SCV000646936 | benign | Chromosome 2q32-q33 deletion syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314997 | SCV000848890 | likely benign | Inborn genetic diseases | 2017-02-11 | 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. |
Gene |
RCV001584304 | SCV001812187 | likely benign | not provided | 2020-09-23 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821559 | SCV002070655 | likely benign | not specified | 2020-05-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001584304 | SCV004148380 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SATB2: BP4, BP7, BS1 |
Prevention |
RCV003915584 | SCV004737205 | likely benign | SATB2-related condition | 2019-12-26 | 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). |