Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989681 | SCV001140216 | pathogenic | Congenital myasthenic syndrome 4A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Solve- |
RCV004768763 | SCV005091521 | likely pathogenic | Congenital myasthenic syndrome 4C | 2022-06-01 | no assertion criteria provided | provider interpretation | Variant confirmed as disease-causing by referring clinical team |