Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172309 | SCV000054984 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000172309 | SCV000237315 | likely benign | not provided | 2021-03-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000461788 | SCV000543110 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-02-09 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000172309 | SCV000884773 | uncertain significance | not provided | 2018-03-21 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852840 | SCV000995570 | likely benign | Cardiomyopathy | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433755 | SCV002749475 | likely benign | Cardiovascular phenotype | 2020-05-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Revvity Omics, |
RCV000172309 | SCV003822264 | likely benign | not provided | 2023-08-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323425 | SCV004029866 | uncertain significance | not specified | 2023-07-09 | criteria provided, single submitter | clinical testing |