Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039146 | SCV000062830 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Asn1098Ser in Exon 28 of CDH23: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (24/6836) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs41281310). |
Gene |
RCV000755903 | SCV000714478 | benign | not provided | 2019-04-23 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21078986, 27068579, 21228398, 18429043, 30245029) |
ARUP Laboratories, |
RCV000755903 | SCV000883553 | likely benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000755903 | SCV001120985 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988380 | SCV001138074 | benign | Retinitis pigmentosa-deafness syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000755903 | SCV002585222 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | CDH23: BP4, BS2 |
Prevention |
RCV003934936 | SCV004749006 | likely benign | CDH23-related condition | 2022-04-21 | 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). |
Natera, |
RCV001272558 | SCV001454650 | likely benign | Usher syndrome type 1 | 2020-06-04 | no assertion criteria provided | clinical testing |