Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252699 | SCV000309829 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625319 | SCV000744905 | benign | Neuronal ceroid lipofuscinosis 13 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000675409 | SCV000841684 | benign | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311380 | SCV000845977 | benign | Inborn genetic diseases | 2016-01-08 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Gene |
RCV000675409 | SCV000985853 | benign | not provided | 2018-06-13 | 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. |
Invitae | RCV000625319 | SCV001723678 | benign | Neuronal ceroid lipofuscinosis 13 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000625319 | SCV000745746 | benign | Neuronal ceroid lipofuscinosis 13 | 2016-05-09 | no assertion criteria provided | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675409 | SCV000801083 | likely benign | not provided | 2015-12-16 | no assertion criteria provided | clinical testing |