Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000258143 | SCV000328349 | uncertain significance | CHARGE association | 2016-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000258143 | SCV001532440 | likely benign | CHARGE association | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001785541 | SCV002027685 | uncertain significance | not provided | 2021-05-21 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002418101 | SCV002677991 | uncertain significance | Inborn genetic diseases | 2018-02-28 | criteria provided, single submitter | clinical testing | The p.N2651S variant (also known as c.7952A>G), located in coding exon 35 of the CHD7 gene, results from an A to G substitution at nucleotide position 7952. The asparagine at codon 2651 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002503969 | SCV002815101 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-05-01 | criteria provided, single submitter | clinical testing |