Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173389 | SCV000224496 | benign | not specified | 2014-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000173389 | SCV000240970 | benign | not specified | 2015-03-16 | 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 | RCV000232414 | SCV000288970 | benign | Progressive myoclonic epilepsy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000173389 | SCV000311208 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000711612 | SCV000841994 | benign | not provided | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316958 | SCV000851194 | benign | Inborn genetic diseases | 2017-11-10 | 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. |
Fulgent Genetics, |
RCV000192023 | SCV002798344 | likely benign | Lafora disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000192023 | SCV000196902 | not provided | Lafora disease | no assertion provided | literature only |