Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001229886 | SCV001402347 | likely benign | Charcot-Marie-Tooth disease dominant intermediate F | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002366029 | SCV002662594 | uncertain significance | Inborn genetic diseases | 2021-09-24 | criteria provided, single submitter | clinical testing | The p.N237H variant (also known as c.709A>C), located in coding exon 8 of the GNB4 gene, results from an A to C substitution at nucleotide position 709. The asparagine at codon 237 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. 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. |