Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000302320 | SCV000330743 | pathogenic | not provided | 2023-07-21 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15146186, 24403048, 22889856, 22885700, 15146185, 26671848) |
Centre for Mendelian Genomics, |
RCV000415456 | SCV000492935 | pathogenic | Global developmental delay; Fetal growth restriction; Abnormal facial shape; Delayed speech and language development; Microcephaly; Sparse scalp hair | 2014-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000624895 | SCV000741437 | pathogenic | Inborn genetic diseases | 2016-04-01 | criteria provided, single submitter | clinical testing | |
Institute for Genomic Statistics and Bioinformatics, |
RCV000856789 | SCV000999347 | pathogenic | Cornelia de Lange syndrome 1 | criteria provided, single submitter | clinical testing | ||
Molecular Genetics laboratory, |
RCV000302320 | SCV004031280 | pathogenic | not provided | 2021-12-16 | no assertion criteria provided | clinical testing |