Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001620304 | SCV001844072 | benign | not provided | 2019-02-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002072922 | SCV002406409 | benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253902 | SCV002524464 | benign | Baraitser-winter syndrome 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253901 | SCV002524465 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001620304 | SCV004144613 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | ACTG1: BP4 |