Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001329687 | SCV001521197 | uncertain significance | Arthrogryposis, renal dysfunction, and cholestasis 1 | 2019-11-08 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Pathology and Clinical Laboratory Medicine, |
RCV001824173 | SCV002073857 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ce |
RCV002275359 | SCV002563273 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | VPS33B: PM2, BP4 |
Revvity Omics, |
RCV002275359 | SCV004237527 | uncertain significance | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing |