Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145706 | SCV000192824 | likely benign | not specified | 2014-03-17 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000145706 | SCV000229906 | benign | not specified | 2014-05-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000472198 | SCV000562406 | benign | CHARGE association | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316926 | SCV000850028 | likely benign | Inborn genetic diseases | 2016-06-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Laboratory for Molecular Medicine, |
RCV000145706 | SCV001652982 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Ala2930Ala in exon 38 of CHD7: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.73% (71/9768) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61736186). |
Gene |
RCV001640180 | SCV001857154 | benign | not provided | 2019-02-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492530 | SCV002798044 | benign | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001640180 | SCV004042347 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | CHD7: BP4, BP7 |