Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679960 | SCV000807394 | pathogenic | Severe intellectual disability-progressive spastic diplegia syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | This splice mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory de novo in a 2-year-old male with microcephaly, delays, mixed tone, dysmorphic features. |