Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001685590 | SCV001897151 | benign | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001776280 | SCV002014233 | benign | Myopathy, centronuclear, 6, with fiber-type disproportion | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001776279 | SCV002014234 | benign | Split-foot malformation-mesoaxial polydactyly syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001685590 | SCV002492656 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975924 | SCV004798260 | benign | MAP3K20-related disorder | 2023-01-26 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |