Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262405 | SCV001440262 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 13 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003223713 | SCV003919554 | uncertain significance | not provided | 2022-10-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV003223713 | SCV004530552 | likely benign | not provided | 2023-06-05 | criteria provided, single submitter | clinical testing |