Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196065 | SCV001366494 | uncertain significance | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2019-06-21 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. |
Mayo Clinic Laboratories, |
RCV002261299 | SCV002541662 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002261299 | SCV002600996 | uncertain significance | not provided | 2022-05-10 | 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 |
Ce |
RCV002261299 | SCV003918164 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing |