Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214732 | SCV000270040 | likely benign | not specified | 2015-06-16 | criteria provided, single submitter | clinical testing | p.Val1675Val in exon 39 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/66590 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org). |
Invitae | RCV000976408 | SCV001124309 | likely benign | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing |