Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315332 | SCV000849111 | likely benign | Inborn genetic diseases | 2017-02-23 | 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. |
Gene |
RCV001698772 | SCV001916524 | benign | not provided | 2020-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253590 | SCV002524721 | benign | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001698772 | SCV003251442 | benign | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965486 | SCV004778444 | likely benign | ADNP-related disorder | 2023-04-12 | 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). |