Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316719 | SCV000850380 | benign | Inborn genetic diseases | 2018-07-27 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Labcorp Genetics |
RCV001085144 | SCV001005779 | benign | KBG syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000864899 | SCV001143023 | benign | not provided | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000864899 | SCV001857767 | benign | not provided | 2018-12-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27055092) |
Genetic Services Laboratory, |
RCV001816784 | SCV002066845 | benign | not specified | 2019-10-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001085144 | SCV002525197 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000864899 | SCV002545831 | likely benign | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | ANKRD11: BP4, BS2 |
Breakthrough Genomics, |
RCV000864899 | SCV005253170 | benign | not provided | criteria provided, single submitter | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000864899 | SCV001800678 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000864899 | SCV001964559 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003965490 | SCV004786665 | benign | ANKRD11-related disorder | 2022-12-29 | no assertion criteria provided | 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). |