Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostic Laboratory, |
RCV001027658 | SCV001437900 | likely pathogenic | Intellectual disability | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Fondazione Telethon, |
RCV001027658 | SCV001169158 | likely pathogenic | Intellectual disability | no assertion criteria provided | clinical testing | ||
OMIM | RCV001375921 | SCV001572901 | pathogenic | Blepharophimosis-impaired intellectual development syndrome | 2021-04-30 | no assertion criteria provided | literature only |