Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861986 | SCV001002412 | benign | CHARGE association | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195447 | SCV001365820 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Val2156Val in exon 31 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 0.21% (18/8556) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs777858802). |
Gene |
RCV001655612 | SCV001871642 | benign | not provided | 2020-12-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507464 | SCV002813055 | likely benign | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-04-01 | criteria provided, single submitter | clinical testing |