Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626765 | SCV000747468 | pathogenic | Hearing impairment; Unsteady gait; Pes planus; Pes cavus; Impaired vibration sensation in the lower limbs; Loss of ambulation; Pain | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090820 | SCV001246559 | pathogenic | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001090820 | SCV001480110 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001090820 | SCV002027966 | pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 23208854, 32860223) |