Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000869994 | SCV001011459 | likely benign | CHARGE association | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195448 | SCV001365822 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Ala2732Ala in exon 38 of CHD7: 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 0.01% (3/50860) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375800664). |
Ce |
RCV003432821 | SCV004155883 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | CHD7: BP4, BP7 |