Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172325 | SCV000051253 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV000229401 | SCV000286688 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-05-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172325 | SCV000981102 | likely benign | not provided | 2020-02-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172325 | SCV001152899 | uncertain significance | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | TTN: PM2 |
Ambry Genetics | RCV002415736 | SCV002727721 | likely benign | Cardiovascular phenotype | 2020-09-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002509279 | SCV002819921 | uncertain significance | not specified | 2022-12-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172325 | SCV003819769 | uncertain significance | not provided | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000172325 | SCV001800756 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000172325 | SCV001962871 | uncertain significance | not provided | no assertion criteria provided | clinical testing |