Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314567 | SCV000848328 | likely benign | Inborn genetic diseases | 2016-07-27 | 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 | RCV000876635 | SCV001019231 | likely benign | KBG syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989660 | SCV001140192 | likely benign | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672938 | SCV001889929 | benign | not provided | 2019-03-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000876635 | SCV002525191 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001672938 | SCV004143454 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | ANKRD11: BP4, BS1 |
Prevention |
RCV003928200 | SCV004740050 | likely benign | ANKRD11-related condition | 2023-12-31 | 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). |
Laboratory of Diagnostic Genome Analysis, |
RCV001672938 | SCV001979799 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001672938 | SCV001980426 | likely benign | not provided | no assertion criteria provided | clinical testing |