Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680125 | SCV000807568 | uncertain significance | Loeys-Dietz syndrome 2 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 12-year-old male with craniosynostosis, mild intellectual disability, dysmorphisms, myopia, syncope. |