Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155043 | SCV000204727 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | 1450-4G>A in Intron 14 of CDH23: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.1% (2/3516) of African American chromosomes fr om a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS). |
Eurofins Ntd Llc |
RCV000725855 | SCV000339957 | uncertain significance | not provided | 2016-04-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000725855 | SCV001620857 | likely benign | not provided | 2023-12-31 | criteria provided, single submitter | clinical testing |