Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000797031 | SCV000936570 | likely benign | Charcot-Marie-Tooth disease, type I | 2022-07-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534615 | SCV003666337 | uncertain significance | Inborn genetic diseases | 2022-12-19 | criteria provided, single submitter | clinical testing | The c.646-5C>G intronic alteration consists of a C to G substitution 5 nucleotides before coding exon 6 in the MPZ gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |