Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825122 | SCV000966379 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Gly2752Gly in Exon 58 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 1/3536 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). |
Invitae | RCV000921267 | SCV001066665 | benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000921267 | SCV002038719 | likely benign | not provided | 2021-04-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276047 | SCV001461875 | uncertain significance | Usher syndrome type 1 | 2020-04-17 | no assertion criteria provided | clinical testing |