Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732746 | SCV000860730 | uncertain significance | not provided | 2018-04-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243284 | SCV003938646 | uncertain significance | Inborn genetic diseases | 2023-04-10 | criteria provided, single submitter | clinical testing | The c.928G>A (p.V310M) alteration is located in exon 9 (coding exon 9) of the TRMU gene. This alteration results from a G to A substitution at nucleotide position 928, causing the valine (V) at amino acid position 310 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |