Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000767813 | SCV000898435 | likely pathogenic | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | Deletions involving this region have been previously reported in patients with hypotonia, developmental delay, intellectual disability and dysmorphic features [PMID: 27633903, 21326286] |