Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375063 | SCV001571832 | uncertain significance | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Moderate, BP4_Supporting |
Ambry Genetics | RCV002550947 | SCV003567991 | uncertain significance | Inborn genetic diseases | 2021-07-28 | criteria provided, single submitter | clinical testing | The c.6328G>A (p.A2110T) alteration is located in exon 18 (coding exon 16) of the TRIOBP gene. This alteration results from a G to A substitution at nucleotide position 6328, causing the alanine (A) at amino acid position 2110 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |