Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081062 | SCV000112969 | benign | not specified | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081062 | SCV000192902 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081062 | SCV000719927 | benign | not specified | 2017-01-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002311612 | SCV000846310 | benign | Inborn genetic diseases | 2016-04-26 | 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 |
RCV000871098 | SCV001012702 | benign | Rubinstein-Taybi syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001727562 | SCV004144964 | likely benign | not provided | 2024-10-01 | criteria provided, single submitter | clinical testing | CREBBP: PM5, BS1, BS2 |
Breakthrough Genomics, |
RCV001727562 | SCV005295917 | benign | not provided | criteria provided, single submitter | not provided | ||
ITMI | RCV000081062 | SCV000084763 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000081062 | SCV001959977 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727562 | SCV001968776 | likely benign | not provided | no assertion criteria provided | clinical testing |