Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156024 | SCV000205737 | likely benign | not specified | 2013-09-26 | criteria provided, single submitter | clinical testing | Thr1568Thr in Exon 38 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 it has been identified in 0.78% (1/128) of M exican chromosomes by the 1000 Genome Project as well as 0.06% (3/4386) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS). |
Eurofins Ntd Llc |
RCV000725853 | SCV000339952 | uncertain significance | not provided | 2016-04-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000725853 | SCV001625549 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725853 | SCV001823502 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826844 | SCV002085722 | likely benign | Usher syndrome type 1 | 2020-01-27 | no assertion criteria provided | clinical testing |