Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000723182 | SCV002072811 | likely benign | not provided | 2022-01-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000723182 | SCV002438858 | likely benign | not provided | 2023-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369987 | SCV002692761 | likely benign | Inborn genetic diseases | 2017-08-30 | 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. |
Prevention |
RCV003892599 | SCV004709228 | likely benign | ARID1B-related condition | 2023-08-17 | 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). |
Gharavi Laboratory, |
RCV000723182 | SCV000854313 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |