Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000120593 | SCV000112946 | benign | not specified | 2014-10-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000120593 | SCV000192844 | benign | not specified | 2017-02-17 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000439802 | SCV000511765 | benign | not provided | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311604 | SCV000846467 | benign | Inborn genetic diseases | 2016-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 | RCV001088835 | SCV001096603 | benign | Rubinstein-Taybi syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000439802 | SCV001833355 | benign | not provided | 2019-10-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19183483, 26243651) |
Ce |
RCV000439802 | SCV004140983 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | CREBBP: PP2, BS1 |
ITMI | RCV000120593 | SCV000084747 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |