Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116230 | SCV000150142 | benign | not specified | 2013-03-04 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000116230 | SCV000204335 | benign | not specified | 2013-04-11 | criteria provided, single submitter | clinical testing | X376X in exon 6 of ACTG1: This variant is not expected to have clinical signific ance because it does not alter the termination codon, it is not located within t he splice consensus sequence, it has been identified in 1.3% (113/8600) of Europ ean American chromosomes and 9% (395/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washingt on.edu/EVS/; dbSNP rs11549223) |
Gene |
RCV000116230 | SCV000516513 | benign | not specified | 2015-11-13 | 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. |
Athena Diagnostics Inc | RCV000710407 | SCV000840619 | benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001512126 | SCV001719476 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253216 | SCV002524419 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253215 | SCV002524420 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing |