Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597404 | SCV000704503 | uncertain significance | not provided | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160021 | SCV003886240 | uncertain significance | Inborn genetic diseases | 2023-03-07 | criteria provided, single submitter | clinical testing | The c.3680G>A (p.R1227Q) alteration is located in exon 29 (coding exon 29) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 3680, causing the arginine (R) at amino acid position 1227 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |