Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649990 | SCV000771827 | benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001289006 | SCV001476494 | benign | not specified | 2020-03-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692248 | SCV001910977 | benign | not provided | 2020-08-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458129 | SCV002739817 | likely benign | Inborn genetic diseases | 2019-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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, |
RCV000649990 | SCV002808030 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953169 | SCV004768380 | likely benign | INF2-related condition | 2019-04-11 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |