Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198113 | SCV001368929 | likely benign | Tibial muscular dystrophy | 2019-03-26 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely benign. |
Invitae | RCV002071851 | SCV002397091 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003222251 | SCV003916198 | benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | TTN: BS1, BS2 |