Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191089 | SCV000245486 | pathogenic | Charcot-Marie-Tooth disease type 2D | 2014-11-20 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found in our laboratory three times: in a 19-year-old male with delays, contractures, hyperextensibility, severe scoliosis, limb malformations, peripheral neuropathy (and a molecularly confirmed CMT1a diagnosis), inherited from a mother with CMT1a, ptosis, hypermobility; in an 11-year-old male with axial dystonia and scoliosis, inherited from a mother with weakness; in a 58-year-old male with progressive neurologic disease, weakness, fatigue, diffuse pain, muscle atrophy, difficulty walking |
Invitae | RCV000860828 | SCV001000992 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Inherited Neuropathy Consortium | RCV000790259 | SCV000929659 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |