Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000116225 | SCV000516418 | benign | not specified | 2015-11-05 | 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 | RCV000541380 | SCV000641804 | benign | Baraitser-Winter syndrome 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000116225 | SCV001365935 | benign | not specified | 2018-12-27 | criteria provided, single submitter | clinical testing | p.Gln314Gln in exon 5 of ACTB: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 4.36% (454/10402) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs11546939). |
Athena Diagnostics Inc | RCV000116225 | SCV001880128 | benign | not specified | 2021-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000541380 | SCV002524386 | benign | Baraitser-Winter syndrome 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253210 | SCV002524387 | benign | Developmental malformations-deafness-dystonia syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116225 | SCV000150137 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Diagnostic Laboratory, |
RCV000116225 | SCV001740303 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000116225 | SCV001955401 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000116225 | SCV001969987 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000116225 | SCV002035392 | benign | not specified | no assertion criteria provided | clinical testing |