Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726014 | SCV000341233 | pathogenic | not provided | 2016-04-07 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000002426 | SCV001429102 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2018-04-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726014 | SCV001824772 | pathogenic | not provided | 2023-08-17 | 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 (gnomAD); This variant is associated with the following publications: (PMID: 22407744, 20004762, 20842734, 9084938, 34815299) |
OMIM | RCV001290022 | SCV000022584 | pathogenic | Ehlers-Danlos syndrome, musculocontractural type 1 | 2010-11-01 | no assertion criteria provided | literature only |