Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484346 | SCV000570286 | likely pathogenic | not provided | 2022-11-11 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genomic Medicine Lab, |
RCV001375990 | SCV001572991 | uncertain significance | Acrofacial dysostosis Cincinnati type | 2020-06-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001375990 | SCV004228235 | pathogenic | Acrofacial dysostosis Cincinnati type | 2024-01-05 | no assertion criteria provided | literature only |