Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081069 | SCV000112976 | benign | not specified | 2013-03-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081069 | SCV000192913 | benign | not specified | 2021-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313777 | SCV000847389 | benign | Inborn genetic diseases | 2016-07-28 | 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 | RCV000871284 | SCV001012907 | benign | Rubinstein-Taybi syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001538690 | SCV001756373 | benign | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490710 | SCV002800555 | likely benign | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2022-01-29 | criteria provided, single submitter | clinical testing |