Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000891471 | SCV001035290 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000891471 | SCV001794188 | likely benign | not provided | 2021-04-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487954 | SCV002803548 | likely benign | Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930803 | SCV004742525 | likely benign | COL4A3-related condition | 2021-03-25 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001274575 | SCV001458831 | uncertain significance | Alport syndrome | 2020-01-24 | no assertion criteria provided | clinical testing |