Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593247 | SCV000704058 | uncertain significance | not provided | 2018-06-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532432 | SCV003731061 | uncertain significance | Inborn genetic diseases | 2022-07-12 | criteria provided, single submitter | clinical testing | The c.1131C>G (p.C377W) alteration is located in exon 11 (coding exon 11) of the TRMU gene. This alteration results from a C to G substitution at nucleotide position 1131, causing the cysteine (C) at amino acid position 377 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |