Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UCLA Clinical Genomics Center, |
RCV000200784 | SCV000255444 | likely pathogenic | Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1 | 2013-07-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763222 | SCV000893849 | pathogenic | Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1 | 2018-10-31 | criteria provided, single submitter | clinical testing |