Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000627685 | SCV000611570 | 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 6.6-year-old male with bilateral inferior iris coloboma, myopia, exotropia, vision loss, delayed motor milestones, delayed speech, attention deficit hyperactivity disorder, anxiety, possible hypertonia, brisk reflexes, microcephaly, dysmorphic features, patent foramen ovale, central obstructive sleep apnea, tibial torsion, pes planus, joint laxity, easy bruising, eczema and a history of umbilical hernia and ankyloglossia. |
Daryl Scott Lab, |
RCV003403206 | SCV004102729 | pathogenic | Neuroocular syndrome | 2023-11-10 | criteria provided, single submitter | clinical testing |