Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039309 | SCV000062993 | likely benign | not specified | 2011-03-01 | criteria provided, single submitter | clinical testing | Ala3146Ala in exon 67 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction. |
Invitae | RCV000913824 | SCV001058980 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000913824 | SCV001792997 | likely benign | not provided | 2018-11-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003944924 | SCV004757780 | likely benign | CDH23-related condition | 2019-11-21 | 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). |