Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172164 | SCV000051094 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000172164 | SCV000713891 | likely benign | not provided | 2020-05-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001087093 | SCV001011168 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172164 | SCV003824807 | uncertain significance | not provided | 2021-07-28 | criteria provided, single submitter | clinical testing | |
Clinical Center for Gene Diagnosis and Therapy, |
RCV003319184 | SCV003932381 | uncertain significance | Primary dilated cardiomyopathy | 2023-06-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004539583 | SCV004789595 | likely benign | TTN-related disorder | 2022-01-26 | no assertion criteria provided | 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). |