Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001587316 | SCV001472964 | benign | not provided | 2020-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587316 | SCV001816799 | likely benign | not provided | 2018-10-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002069521 | SCV002399170 | benign | Charcot-Marie-Tooth disease axonal type 2Z | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002069521 | SCV002554143 | benign | Charcot-Marie-Tooth disease axonal type 2Z | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271203 | SCV002554154 | benign | Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002499496 | SCV002808644 | likely benign | Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 2022-05-17 | criteria provided, single submitter | clinical testing |