Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634420 | SCV000755725 | benign | CHARGE association | 2023-03-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360535 | SCV002662410 | uncertain significance | Inborn genetic diseases | 2019-08-14 | criteria provided, single submitter | clinical testing | The p.F226L variant (also known as c.676T>C), located in coding exon 1 of the CHD7 gene, results from a T to C substitution at nucleotide position 676. The phenylalanine at codon 226 is replaced by leucine, 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, |
RCV002492963 | SCV002791602 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-01-06 | criteria provided, single submitter | clinical testing |