Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000785146 | SCV000923709 | uncertain significance | Shashi-Pena syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003279059 | SCV003981537 | uncertain significance | Inborn genetic diseases | 2023-05-17 | criteria provided, single submitter | clinical testing | The c.4118T>C (p.M1373T) alteration is located in exon 13 (coding exon 13) of the ASXL2 gene. This alteration results from a T to C substitution at nucleotide position 4118, causing the methionine (M) at amino acid position 1373 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |