Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610432 | SCV000711313 | likely benign | not specified | 2016-07-28 | criteria provided, single submitter | clinical testing | p.Val1666Val in exon 39 of DOCK8: 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 11/66580 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs370901183). |
Invitae | RCV003596054 | SCV001063087 | likely benign | Autosomal recessive hyper-IgE syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000610432 | SCV003839440 | likely benign | not specified | 2022-12-13 | no assertion criteria provided | clinical testing |