Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215352 | SCV000270037 | likely benign | not specified | 2015-10-20 | criteria provided, single submitter | clinical testing | c.4210-13C>T in intron 34 of CDH23: This variant is not expected to have clinica l significance because a C>T change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has be en identified in 4/8622 of East Asian chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs377079875). |
Invitae | RCV001493981 | SCV001698628 | likely benign | not provided | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001493981 | SCV002028424 | likely benign | not provided | 2021-05-25 | criteria provided, single submitter | clinical testing |