Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001078926 | SCV000286591 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731205 | SCV000858991 | uncertain significance | not provided | 2018-01-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002282075 | SCV002572063 | likely benign | not specified | 2022-08-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000731205 | SCV004152479 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Prevention |
RCV003919943 | SCV004731095 | likely benign | TTN-related condition | 2019-05-24 | 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). |