Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001433579 | SCV001636370 | likely benign | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 2022-11-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003403473 | SCV004136296 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | MEIS2: BP4, BP7 |
Prevention |
RCV003937927 | SCV004747366 | likely benign | MEIS2-related condition | 2019-03-29 | 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). |