Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314569 | SCV000848331 | likely benign | Inborn genetic diseases | 2016-11-21 | 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. |
Invitae | RCV000864639 | SCV001005467 | benign | KBG syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683643 | SCV001901912 | benign | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816762 | SCV002066867 | benign | not specified | 2019-07-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001683643 | SCV002498210 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ANKRD11: BP4, BP7, BS1, BS2 |
Genome- |
RCV000864639 | SCV002524178 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918164 | SCV004735735 | benign | ANKRD11-related condition | 2019-08-30 | 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). |