Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703477 | SCV000513967 | likely benign | not provided | 2020-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001466176 | SCV001670176 | likely benign | Pitt-Hopkins-like syndrome 2 | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429362 | SCV002731851 | likely benign | Inborn genetic diseases | 2018-12-13 | 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. |
Prevention |
RCV003970118 | SCV004779277 | likely benign | NRXN1-related condition | 2021-12-29 | 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). |