Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000656437 | SCV000678324 | likely pathogenic | Intellectual disability | 2017-01-01 | criteria provided, single submitter | research | |
OMIM | RCV000851337 | SCV000993640 | pathogenic | Basilicata-Akhtar syndrome | 2019-12-12 | no assertion criteria provided | literature only |