Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172374 | SCV000055040 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Eurofins Ntd Llc |
RCV000172374 | SCV000701372 | uncertain significance | not provided | 2016-09-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000591182 | SCV000714738 | likely benign | not specified | 2018-02-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000642914 | SCV000764601 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172374 | SCV003819779 | uncertain significance | not provided | 2019-07-08 | criteria provided, single submitter | clinical testing |