Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001174277 | SCV001337407 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV002227251 | SCV002506110 | likely benign | not provided | 2022-02-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002240750 | SCV002509601 | benign | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U | 2024-11-29 | criteria provided, single submitter | clinical testing |