Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862340 | SCV001002836 | benign | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000862340 | SCV001747379 | likely benign | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381913 | SCV002688842 | likely benign | Inborn genetic diseases | 2022-02-13 | 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. |
Genome- |
RCV003127497 | SCV003801920 | benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127498 | SCV003801921 | benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908176 | SCV004726337 | benign | ATR-related condition | 2019-07-30 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |