Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003368462 | SCV004056252 | uncertain significance | Inborn genetic diseases | 2023-06-22 | criteria provided, single submitter | clinical testing | The c.3400G>A (p.G1134R) alteration is located in exon 18 (coding exon 18) of the TENM3 gene. This alteration results from a G to A substitution at nucleotide position 3400, causing the glycine (G) at amino acid position 1134 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Center for Computational Biology & Bioinformatics, |
RCV004572953 | SCV005049969 | uncertain significance | Meniere disease | 2024-06-03 | no assertion criteria provided | research |