Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679940 | SCV000807374 | uncertain significance | Autosomal dominant hypocalcemia 1 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 9-year-old male with intellectual disability, regression, autism spectrum, abnormal EEG, hyperopia, esotropia, fatigue, constipation, reflux, flat feet, repetitive hand movements, unsteady gait, hypoparathyroidsim, precocious puberty. |