Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000152755 | SCV000202142 | benign | not specified | 2014-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000826947 | SCV000968547 | likely benign | not provided | 2018-04-10 | 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. |
Invitae | RCV000826947 | SCV001014803 | likely benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000152755 | SCV002066089 | benign | not specified | 2017-12-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498722 | SCV002809522 | likely benign | FRAXE | 2022-01-10 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001251879 | SCV001427625 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000826947 | SCV001741620 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000826947 | SCV001797851 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000152755 | SCV001928865 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000826947 | SCV002037675 | likely benign | not provided | no assertion criteria provided | clinical testing |