Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003133923 | SCV003812601 | uncertain significance | Kleefstra syndrome 2 | 2019-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004636707 | SCV005133470 | uncertain significance | Inborn genetic diseases | 2024-06-07 | criteria provided, single submitter | clinical testing | The c.461G>C (p.R154T) alteration is located in exon 4 (coding exon 4) of the KMT2C gene. This alteration results from a G to C substitution at nucleotide position 461, causing the arginine (R) at amino acid position 154 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |