Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000524790 | SCV000646943 | benign | Chromosome 2q32-q33 deletion syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315001 | SCV000848984 | likely benign | Inborn genetic diseases | 2017-02-08 | 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 |
RCV001675926 | SCV001892799 | benign | not provided | 2019-03-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001675926 | SCV004148379 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | SATB2: BP4, BP7, BS1 |