Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001194662 | SCV001334433 | pathogenic | Intellectual disability | 2020-06-05 | criteria provided, single submitter | research | The stop variant c.1954C>T, p.(Arg652*) in QRICH1 was identified by trio exome sequencing in a boy with global developmental delay, muscular hypotonia, microcephaly, neurodermitis and obstipation. This variant has not been reported in the general population and but has been described as a disease causing previously (PMID: 28692176). The healthy and unrelated parents did not carry the variant, confirming de novo status. |
Institute of Human Genetics, |
RCV000627084 | SCV002044402 | pathogenic | Ververi-Brady syndrome | 2021-12-21 | criteria provided, single submitter | research | |
Gene |
RCV002225697 | SCV002504456 | pathogenic | not provided | 2021-01-20 | 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; This variant is associated with the following publications: (PMID: 28692176, 33009816, 28135719, 28191890, 31785789) |
OMIM | RCV000627084 | SCV000747894 | pathogenic | Ververi-Brady syndrome | 2021-06-04 | no assertion criteria provided | literature only |