Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Statistics and Bioinformatics, |
RCV000856737 | SCV000999284 | pathogenic | Mandibulofacial dysostosis-microcephaly syndrome | criteria provided, single submitter | clinical testing | ||
Laboratory of Molecular Genetics |
RCV002279566 | SCV002564481 | likely pathogenic | Neurodevelopmental disorder | 2022-02-18 | criteria provided, single submitter | clinical testing |