Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000995511 | SCV001149714 | pathogenic | Fibrochondrogenesis 2 | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001257573 | SCV001433868 | pathogenic | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2020-09-28 | no assertion criteria provided | clinical testing | PVS1, PM2, PM3_supporting as ist was in homozygous condition in the patient |
Clinical Laboratory Sciences Program |
RCV003326527 | SCV003927880 | likely pathogenic | Autosomal dominant nonsyndromic hearing loss 13 | 2023-04-01 | no assertion criteria provided | clinical testing |