Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000056587 | SCV003805499 | pathogenic | not provided | 2023-02-19 | criteria provided, single submitter | clinical testing | Frameshift 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: 20222933, 22437315, 16465624, 32382646, 31449063, 25284854, 21422339, 29882260) |
OMIM | RCV000015762 | SCV000036027 | pathogenic | Dowling-Degos disease 1 | 2010-07-01 | no assertion criteria provided | literature only | |
Epithelial Biology; Institute of Medical Biology, |
RCV000056587 | SCV000087700 | not provided | not provided | no assertion provided | not provided |