Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039138 | SCV000062820 | likely benign | not specified | 2011-03-08 | criteria provided, single submitter | clinical testing | p.Arg964Gln in exon 25 of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (24/8460) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs376560330). |
Eurofins Ntd Llc |
RCV000724091 | SCV000228263 | uncertain significance | not provided | 2016-07-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724091 | SCV001031598 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001106485 | SCV001263558 | uncertain significance | Usher syndrome type 1D | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001106486 | SCV001263559 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV000724091 | SCV001792983 | likely benign | not provided | 2019-12-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32425987, 31054281, 24767429) |
Prevention |
RCV003407407 | SCV004114912 | likely benign | CDH23-related condition | 2023-12-26 | 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, |
RCV001271854 | SCV001453326 | likely benign | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |