Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725842 | SCV000339888 | uncertain significance | not provided | 2016-02-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000339520 | SCV000720092 | likely benign | not specified | 2017-05-30 | 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 | RCV001403646 | SCV001605521 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-01-31 | criteria provided, single submitter | clinical testing |