Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000627684 | SCV000611569 | pathogenic | Autism; Motor delay; Iris coloboma; Delayed speech and language development; Abnormality of vision | 2017-11-15 | criteria provided, single submitter | clinical testing | This variant was seen once in our laboratory de novo in a 8-year-old male with delayed motor milestones, delayed speech, intellectual disability, hypotonia, unilateral sensorineural hearing loss, dysmorphic features (downslanting palpebral fissures, ptosis, mid-face hypoplasia, low set ears), short stature, eye anomalies (esotropia, stellate iris, distichiasis), vision loss, and skeletal abnormalities (scapular winging). |
OMIM | RCV001722435 | SCV001934623 | pathogenic | Neuroocular syndrome | 2021-09-24 | no assertion criteria provided | literature only |