Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000971736 | SCV001119400 | likely benign | not provided | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000971736 | SCV001776512 | uncertain significance | not provided | 2024-06-11 | criteria provided, single submitter | clinical testing | Reported in the heterozygous state in unrelated patients with hearing loss in published literature (Markova et al., 2016; Boucher et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27260575, 33229591) |