Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002052153 | SCV002318652 | uncertain significance | Cohen syndrome | 2022-03-22 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000040). In silico tool predictions suggest damaging effect of the variant on gene or gene product (SPLICEAI: 0.8>=0.8). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |