Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734493 | SCV000862641 | uncertain significance | not provided | 2018-08-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003758921 | SCV004538676 | likely benign | Rubinstein-Taybi syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892674 | SCV004711923 | likely benign | CREBBP-related disorder | 2022-03-04 | no assertion criteria provided | 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). |