Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219661 | SCV000270038 | benign | not specified | 2016-04-21 | criteria provided, single submitter | clinical testing | c.4210-14A>C in Intron 34 of CDH23: This variant is not expected to have clinica l significance because it has been identified in 0.4% (43/9800) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs149441656). |
Invitae | RCV001513652 | SCV001721305 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001513652 | SCV001777447 | likely benign | not provided | 2020-05-18 | criteria provided, single submitter | clinical testing |