Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002283802 | SCV002572897 | uncertain significance | Xeroderma pigmentosum, group G | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.88). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |