Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467817 | SCV000555410 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721506 | SCV000730362 | likely benign | not provided | 2019-05-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001721506 | SCV002544159 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Revvity Omics, |
RCV001721506 | SCV003818535 | uncertain significance | not provided | 2022-06-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970298 | SCV004777345 | likely benign | TTN-related condition | 2022-09-26 | 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). |