Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156512 | SCV000206231 | likely benign | not specified | 2014-05-02 | criteria provided, single submitter | clinical testing | Thr1504Thr in exon 37 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
ARUP Laboratories, |
RCV000156512 | SCV000602956 | likely benign | not specified | 2017-02-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000906912 | SCV000714484 | likely benign | not provided | 2021-10-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000906912 | SCV001051580 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |