Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219478 | SCV000268853 | benign | not specified | 2016-03-03 | criteria provided, single submitter | clinical testing | p.Ser1041Ser in exon 26A 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 1.8% (63/3446) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs557460474). |
Invitae | RCV002054367 | SCV002348298 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002054367 | SCV003916604 | benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | CDH23: BP4, BP7, BS1, BS2 |