Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000254853 | SCV000321865 | pathogenic | not provided | 2023-01-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25865493, 12072800, 28482824, 36097645, 36477366, 34643041) |
Institute of Medical Genetics and Applied Genomics, |
RCV000254853 | SCV001480149 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Reparto di Fisiopatologia delle Malattie Genetiche, |
RCV000149904 | SCV000196755 | pathogenic | Ayme-Gripp syndrome | no assertion criteria provided | not provided | Converted during submission to Pathogenic. | |
OMIM | RCV000149904 | SCV000223824 | pathogenic | Ayme-Gripp syndrome | 2015-05-07 | no assertion criteria provided | literature only |