Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037127 | SCV000060784 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Ala310Ala in Exon 05 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 37.7% (2650/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1135989)." |
Gene |
RCV000037127 | SCV000516363 | benign | not specified | 2015-10-28 | 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 | RCV001512198 | SCV001719568 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001549223 | SCV001769334 | benign | Baraitser-winter syndrome 2 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001549224 | SCV001769335 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000037127 | SCV000150150 | 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. | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037127 | SCV001951726 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000037127 | SCV001969269 | benign | not specified | no assertion criteria provided | clinical testing |