Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152031 | SCV000200612 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "His944His in Exon 21 of TJP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.4% (14/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs61753629)." |
Eurofins Ntd Llc |
RCV000152031 | SCV000340142 | benign | not specified | 2016-04-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000840155 | SCV000982072 | likely benign | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000840155 | SCV002480817 | benign | not provided | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000840155 | SCV005226456 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003975185 | SCV004787262 | likely benign | TJP2-related disorder | 2020-02-20 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |