Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001590072 | SCV001824919 | uncertain significance | not provided | 2023-02-21 | 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 | RCV001590072 | SCV004454634 | benign | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003987885 | SCV004804831 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 9 | 2024-03-17 | criteria provided, single submitter | research |