Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081066 | SCV000112973 | benign | not specified | 2013-03-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313776 | SCV000849113 | likely benign | Inborn genetic diseases | 2016-06-08 | 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 | RCV001521307 | SCV001730626 | benign | Rubinstein-Taybi syndrome | 2022-10-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000872058 | SCV001830820 | benign | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477234 | SCV002803457 | likely benign | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000872058 | SCV004010448 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | CREBBP: BP4, BP7, BS1 |