Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766714 | SCV000616673 | likely benign | not provided | 2020-06-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30245029, 23525850) |
Laboratory for Molecular Medicine, |
RCV000520188 | SCV000731772 | likely benign | not specified | 2017-07-13 | criteria provided, single submitter | clinical testing | p.Glu952Lys in exon 25 of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.34% (116/34368) of Latino chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs370554545). |
Invitae | RCV000766714 | SCV001051426 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing |