Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081064 | SCV000112971 | benign | not specified | 2013-08-23 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081064 | SCV000192905 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311614 | SCV000847233 | likely benign | Inborn genetic diseases | 2016-07-22 | 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 | RCV000871303 | SCV001012930 | benign | Rubinstein-Taybi syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001538278 | SCV001755905 | benign | not provided | 2018-09-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001538278 | SCV002563305 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CREBBP: BP4, BP7, BS2 |