Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000969283 | SCV000725922 | benign | not provided | 2020-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000969283 | SCV001116791 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989144 | SCV001139360 | likely benign | Autosomal dominant auditory neuropathy 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000969283 | SCV002563175 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | DIAPH3: BP4 |
Prevention |
RCV003905630 | SCV004722111 | benign | DIAPH3-related condition | 2019-11-01 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |