Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221351 | SCV000270039 | likely benign | not specified | 2016-03-22 | criteria provided, single submitter | clinical testing | p.Thr1649Thr in Exon 39 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.2% (121/ 65676) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs373046094). |
Invitae | RCV000937626 | SCV001083416 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000937626 | SCV001791389 | likely benign | not provided | 2020-08-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000937626 | SCV004126741 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | CDH23: BP4, BP7 |
Prevention |
RCV003937819 | SCV004754542 | likely benign | CDH23-related condition | 2019-07-22 | 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). |