Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000993356 | SCV001146254 | uncertain significance | not provided | 2018-11-29 | criteria provided, single submitter | clinical testing | |
3billion | RCV001029872 | SCV002058257 | uncertain significance | Focal segmental glomerulosclerosis 2 | 2022-01-03 | criteria provided, single submitter | clinical testing | The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.811, PP3_P). A missense variant is a common mechanism associated with Glomerulosclerosis (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029872 | SCV001192661 | uncertain significance | Focal segmental glomerulosclerosis 2 | 2019-11-22 | no assertion criteria provided | clinical testing |