Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527924 | SCV000651624 | likely benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2020-02-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717290 | SCV000848139 | likely benign | History of neurodevelopmental disorder | 2018-01-30 | criteria provided, single submitter | clinical testing | Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign) |