Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000354524 | SCV000337965 | benign | not specified | 2015-12-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000636899 | SCV000758343 | benign | Severe X-linked myotubular myopathy | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001764249 | SCV001988832 | benign | not provided | 2021-07-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543059 | SCV004761628 | likely benign | MTM1-related disorder | 2019-11-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |