Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fondazione Telethon, |
RCV001027661 | SCV001169161 | likely pathogenic | Intellectual disability | no assertion criteria provided | clinical testing | ||
OMIM | RCV001375922 | SCV001572902 | pathogenic | Blepharophimosis-impaired intellectual development syndrome | 2021-04-30 | no assertion criteria provided | literature only |