Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001342011 | SCV001535912 | likely benign | Charcot-Marie-Tooth disease dominant intermediate F | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002546945 | SCV003539482 | uncertain significance | Inborn genetic diseases | 2022-01-05 | criteria provided, single submitter | clinical testing | The c.803A>G (p.N268S) alteration is located in exon 9 (coding exon 8) of the GNB4 gene. This alteration results from a A to G substitution at nucleotide position 803, causing the asparagine (N) at amino acid position 268 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |