Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150331 | SCV000197430 | uncertain significance | not specified | 2014-03-15 | criteria provided, single submitter | clinical testing | The Arg3206His variant in CDH23 has not been previously reported in individuals with hearing loss, but has been identified in 0.1% (4/4142) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs374156784). Computational prediction tools and conservation analys es do not provide strong support for or against an impact to the protein. In sum mary, additional information is needed to determine the clinical significance of this variant. |
Labcorp Genetics |
RCV001067382 | SCV001232441 | likely benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001067382 | SCV002599697 | uncertain significance | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | Identified in a patient with retinal dystrophy who also had variants in the ABCA4 gene (PMID: 32090030); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Li[article]2022, 32090030) |
Natera, |
RCV001826807 | SCV002095283 | uncertain significance | Usher syndrome type 1 | 2019-10-28 | no assertion criteria provided | clinical testing |