Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000244515 | SCV000318159 | uncertain significance | Inborn genetic diseases | 2014-06-05 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected |
Invitae | RCV000463022 | SCV000543064 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-08-03 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000598397 | SCV000703173 | uncertain significance | not provided | 2016-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000598397 | SCV000977570 | likely benign | not provided | 2018-04-13 | 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. |
Revvity Omics, |
RCV000598397 | SCV003819786 | uncertain significance | not provided | 2022-11-02 | criteria provided, single submitter | clinical testing |