Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667621 | SCV000792100 | uncertain significance | Autosomal recessive Alport syndrome | 2017-06-07 | criteria provided, single submitter | clinical testing | |
3billion | RCV000667621 | SCV002573116 | uncertain significance | Autosomal recessive Alport syndrome | 2022-09-01 | 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: 0.004%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.72; 3Cnet: 0.02). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |
Invitae | RCV002530717 | SCV003525000 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing |