Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000602338 | SCV000731993 | likely benign | not specified | 2017-10-16 | criteria provided, single submitter | clinical testing | p.Phe1634Phe 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. This variant has been identified in 0.08% (23/30748) of South Asian chromosomes by the Genome Aggregation Database (gnomAD , http://gnomad.broadinstitute.org; dbSNP rs565823145). ACMG/AMP Criteria applie d: BP4, BP7 (Richards 2015). |
Invitae | RCV001495760 | SCV001700449 | likely benign | not provided | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000602338 | SCV001880647 | likely benign | not specified | 2021-03-03 | criteria provided, single submitter | clinical testing |