Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478999 | SCV000571767 | pathogenic | not provided | 2021-03-24 | 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 a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31766397, 30457648) |
Institute of Medical Molecular Genetics, |
RCV000625550 | SCV001548054 | likely pathogenic | Autosomal recessive bestrophinopathy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625550 | SCV000746045 | pathogenic | Autosomal recessive bestrophinopathy | 2017-09-18 | no assertion criteria provided | clinical testing |