Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037085 | SCV000060742 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | His992Arg in Exon 19 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 6.9% (174/2532) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs77236826). |
Gene |
RCV001689589 | SCV001907167 | benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing |