Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459480 | SCV000542603 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000728972 | SCV000856601 | uncertain significance | not provided | 2017-08-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000728972 | SCV000982621 | likely benign | not provided | 2018-03-19 | 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. |