Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002952420 | SCV003267941 | likely benign | CHARGE syndrome | 2024-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002952421 | SCV003572118 | uncertain significance | Inborn genetic diseases | 2021-08-12 | criteria provided, single submitter | clinical testing | The c.443G>A (p.R148K) alteration is located in exon 2 (coding exon 1) of the CHD7 gene. This alteration results from a G to A substitution at nucleotide position 443, causing the arginine (R) at amino acid position 148 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV003443094 | SCV004170782 | uncertain significance | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |