Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000614381 | SCV000731557 | likely benign | not specified | 2017-04-14 | criteria provided, single submitter | clinical testing | p.Ala897Ala in exon 24 of CDH23: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/30782 South Asi an chromosomes and 1/15286 African chromosomes by the genome Aggregation Databas e (gnomAD, http://gnomad.broadinstitute.org). |
Invitae | RCV001460155 | SCV001664018 | likely benign | not provided | 2023-10-26 | criteria provided, single submitter | clinical testing |