Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000084532 | SCV000614052 | pathogenic | not provided | 2017-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000084532 | SCV002599831 | likely pathogenic | not provided | 2022-11-04 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate an increase in four-repeat over three-repeat tau isoforms, which leads to formation of abnormal tau filaments (Spillantini et al., 1998); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25556536, 22818528, 32184751, 16008820, 21753165, 30996196, 25525159, 9636220, 19786698, 10931371, 21849646, 21568901, 25628962, 25574752, 21986680, 25683866, 27222125, 22290573, 34274155, 33203472, 34099697) |
VIB Department of Molecular Genetics, |
RCV000084532 | SCV000116668 | not provided | not provided | no assertion provided | not provided |