Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679973 | SCV000807407 | uncertain significance | Mandibulofacial dysostosis-microcephaly syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 2-year-old female with global delays, hypotonia, abnormal movements, short stature, dysmorphic features, hyperextesibility, failure to thrive |