Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194737 | SCV000246538 | pathogenic | Coffin-Siris syndrome 1 | 2014-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000523275 | SCV000617284 | pathogenic | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 260 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23929686, 24090879, 24866042, 27474218, 30755392) |
Center for Personalized Medicine, |
RCV000735324 | SCV000854478 | pathogenic | Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangioma; Congenital talipes calcaneovalgus | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV000194737 | SCV002054296 | pathogenic | Coffin-Siris syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Center for Personalized Medicine, |
RCV003156084 | SCV003845248 | pathogenic | See cases | 2022-12-21 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000194737 | SCV001132874 | pathogenic | Coffin-Siris syndrome 1 | 2019-01-29 | no assertion criteria provided | clinical testing |