Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000910255 | SCV001055106 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000910255 | SCV001813725 | likely benign | not provided | 2020-07-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495497 | SCV002795083 | likely benign | Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-09-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003912998 | SCV004736940 | likely benign | COL4A4-related condition | 2021-10-21 | 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, |
RCV001274055 | SCV001457783 | uncertain significance | Alport syndrome | 2019-11-11 | no assertion criteria provided | clinical testing |