Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000268205 | SCV000345580 | pathogenic | not provided | 2016-08-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000268205 | SCV002023275 | likely pathogenic | not provided | 2021-02-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000268205 | SCV002563889 | pathogenic | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV003224871 | SCV003921027 | pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2023-02-14 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous._x000D_ Criteria applied: PVS1, PM2_SUP, PM3_SUP |