Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000235074 | SCV000292347 | likely pathogenic | Charcot-Marie-Tooth disease X-linked recessive 4 | 2015-08-18 | criteria provided, single submitter | research | Likely pathogenic based on conservation and prediction scores (Phylop, Polyphen, SIFT, MutationTaster) and consistent with neuropathy of patient. Patient also had Sotos syndrome with de novo frameshift insertion in NSD1 |
Invitae | RCV000538656 | SCV000658927 | benign | Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000837953 | SCV000979815 | likely benign | not provided | 2021-01-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26257172, 32376792) |
Practice for Gait Abnormalities, |
RCV003319977 | SCV004023413 | likely pathogenic | Tip-toe gait | 2021-03-12 | no assertion criteria provided | clinical testing |