Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000680324 | SCV000343797 | uncertain significance | not provided | 2017-12-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000680324 | SCV000516391 | benign | not provided | 2020-06-29 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000281379 | SCV000710975 | likely benign | not specified | 2016-05-28 | criteria provided, single submitter | clinical testing | p.His275His in exon 05 of ACTG1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 7/10360 African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs145303691). |
Invitae | RCV003765664 | SCV004583888 | likely benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004549614 | SCV004739575 | likely benign | ACTG1-related disorder | 2022-12-22 | 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). |