Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039102 | SCV000062784 | likely benign | not specified | 2014-08-11 | criteria provided, single submitter | clinical testing | Val482Val in Exon 14A 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 2/4254 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs200324241). |
Eurofins Ntd Llc |
RCV000726725 | SCV000702446 | uncertain significance | not provided | 2016-11-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726725 | SCV001055151 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726725 | SCV001768125 | likely benign | not provided | 2021-03-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001275926 | SCV001461606 | likely benign | Usher syndrome type 1 | 2020-04-24 | no assertion criteria provided | clinical testing |