Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039279 | SCV000062963 | benign | not specified | 2012-05-14 | criteria provided, single submitter | clinical testing | Gln2674Gln in Exon 56 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.7% (50/6690) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). |
Eurofins Ntd Llc |
RCV000039279 | SCV000114034 | likely benign | not specified | 2015-10-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000039279 | SCV000167625 | benign | not specified | 2014-01-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000488300 | SCV000574847 | likely benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | CDH23: BP4, BS2 |
Labcorp Genetics |
RCV000488300 | SCV001117446 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001105927 | SCV001262942 | likely benign | Usher syndrome type 1D | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Laboratory Services, |
RCV001105928 | SCV001262943 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Genome- |
RCV001105927 | SCV001737290 | likely benign | Usher syndrome type 1D | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276915 | SCV001463572 | benign | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004534836 | SCV004746333 | benign | CDH23-related disorder | 2019-07-23 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |