Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001718856 | SCV000513974 | likely benign | not provided | 2019-02-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22405623) |
Ambry Genetics | RCV002314153 | SCV000848044 | likely benign | Inborn genetic diseases | 2016-10-18 | 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. |
Ce |
RCV001718856 | SCV002063864 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | NRXN1: BP4, BP7 |
Fulgent Genetics, |
RCV002502477 | SCV002808866 | likely benign | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | 2022-03-30 | criteria provided, single submitter | clinical testing |