Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053907 | SCV001218192 | likely benign | CHARGE association | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002460127 | SCV002618417 | uncertain significance | Inborn genetic diseases | 2018-11-23 | criteria provided, single submitter | clinical testing | The p.R1155H variant (also known as c.3464G>A), located in coding exon 13 of the CHD7 gene, results from a G to A substitution at nucleotide position 3464. The arginine at codon 1155 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002481982 | SCV002778222 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-03-02 | criteria provided, single submitter | clinical testing |