Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217702 | SCV000268784 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | -6-3C>T in Intron 01 of ACTG1: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (42/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washin |
Gene |
RCV000680281 | SCV000511965 | benign | not provided | 2016-07-20 | 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. |
Genome- |
RCV002253295 | SCV002524523 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253294 | SCV002524524 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000680281 | SCV004144627 | benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | ACTG1: BS1, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV000680281 | SCV001799997 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000217702 | SCV001968571 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000680281 | SCV002035150 | likely benign | not provided | no assertion criteria provided | clinical testing |