Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002661362 | SCV003539150 | uncertain significance | Inborn genetic diseases | 2021-10-18 | criteria provided, single submitter | clinical testing | The c.3193C>T (p.R1065W) alteration is located in exon 12 (coding exon 12) of the ASXL3 gene. This alteration results from a C to T substitution at nucleotide position 3193, causing the arginine (R) at amino acid position 1065 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003140152 | SCV003825175 | uncertain significance | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2021-02-05 | criteria provided, single submitter | clinical testing |