Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Human Genetics, |
RCV001290360 | SCV001478247 | pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2021-01-05 | criteria provided, single submitter | clinical testing | CNVs (Copy Number Variations), SNVs (Single Nucleotide Variations) and indels involving the MED13L gene (mediator complex subunit 13 like - OMIM*608771) can lead to an autosomal dominant clinical condition (Mental retardation and distinctive facial features with or without cardiac defects; MRFACD OMIM#616789) characterized by intellectual disability (ID) associated with facial dysmorphisms in which heart defects have incomplete penetrance (Cafiero et al., 2015; Asadollahi et al., 2017). ACMG rules for the variant: PVS1 and PM2 |