Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039192 | SCV000062876 | likely benign | not specified | 2012-04-17 | criteria provided, single submitter | clinical testing | sn1651Asn in exon 39 of CDH23: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. |
Invitae | RCV001453442 | SCV001657136 | likely benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing |