Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000420872 | SCV000516400 | likely benign | not provided | 2021-06-04 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825693 | SCV000967134 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Gly42Gly in Exon 03 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2/7018 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs11549197). |
Invitae | RCV001082075 | SCV001015577 | likely benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000420872 | SCV001142900 | benign | not provided | 2019-07-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253424 | SCV002524499 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253423 | SCV002524500 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000420872 | SCV004010582 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | ACTG1: BP4, BP7 |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000420872 | SCV001959474 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000420872 | SCV001969137 | likely benign | not provided | no assertion criteria provided | clinical testing |