Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501140 | SCV000593049 | uncertain significance | not specified | 2016-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000904423 | SCV001048939 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000904423 | SCV002496681 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | ADNP: BP4, BS1 |
Prevention |
RCV003932805 | SCV004751419 | likely benign | ADNP-related condition | 2021-05-19 | 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). |