Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727858 | SCV000237216 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000464661 | SCV000542930 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-12-17 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727858 | SCV000855325 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415794 | SCV002719642 | likely benign | Cardiovascular phenotype | 2018-10-29 | 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. |
Revvity Omics, |
RCV000727858 | SCV003818527 | uncertain significance | not provided | 2022-05-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004525888 | SCV005039599 | uncertain significance | not specified | 2024-03-11 | criteria provided, single submitter | clinical testing |