Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000296619 | SCV000342655 | benign | not specified | 2016-06-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000874192 | SCV000528804 | benign | not provided | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000296619 | SCV001365607 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Val339Val in Exon 06 of ACTG1: 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 0.6% (22/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs111305526)." |
Invitae | RCV002059240 | SCV002411392 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253374 | SCV002524428 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253373 | SCV002524429 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000874192 | SCV004144606 | benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | ACTG1: BS1, BS2 |
Prevention |
RCV003930154 | SCV004737857 | likely benign | ACTG1-related condition | 2023-07-18 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |